Property Summary

NCBI Gene PubMed Count 488
PubMed Score 1221.02
PubTator Score 1244.80

Knowledge Summary

Patent (69,825)

TINX Plot

  Disease (10)

Disease Target Count
Administration of Corneal Anesthesia 6
Administration of Local Anesthetic Nerve Block 14
Administration of Regional Anesthesia 7
Amyotrophic Lateral Sclerosis 432
Anesthesia for cesarean section 8
Angina pectoris 21
Atrial Fibrillation 110
Bipolar affective disorder, current episode manic 13
Bipolar disorder in remission 19
Cardioversion of Atrial Fibrillation 9
Cough 21
Dysuria 24
Epilepsy 346
Epilepsy characterized by intractable complex partial seizures 28
Glossopharyngeal neuralgia 4
Hemorrhoids 13
Infestation by Phthirus pubis 7
Infestation by Sarcoptes scabiei var hominis 7
Itching of skin 19
Lennox-Gastaut syndrome 34
Life-Threatening Ventricular Tachycardia 15
Local Anesthesia for Endotracheal Intubation 6
Local Anesthesia for Ophthalmologic Procedure 7
Local Anesthesia for Urethral Pain 6
Local anesthesia 40
Local anesthesia, by infiltration 14
Local anesthetic intrathecal block 7
Localization-related epilepsy 13
Major Nerve Block for Surgery 8
Malaria 140
Migraine Prevention 22
Minor Skin Wound Pain 12
Mixed Epilepsy 3
Mixed bipolar I disorder 9
Motor cortex epilepsy 10
Mouth Irritation 12
Neuralgia 16
Parkinsonism 19
Paroxysmal atrial fibrillation 6
Paroxysmal atrial flutter 2
Paroxysmal supraventricular tachycardia 11
Partial seizure 15
Pediculosis capitis 7
Postherpetic neuralgia 12
Premature ejaculation 16
Prevent Minor Bacterial Skin Infection 10
Prevention of Paroxysmal Supraventricular Tachycardia 4
Prevention of Seizures following Cranial Trauma or Surgery 7
Pruritus ani 14
Pseudobulbar affect 5
Regional Anesthesia for Labor Pain 9
Regional Anesthesia for Ophthalmologic Surgery 6
Regional Anesthesia for Postoperative Pain 9
Regional Anesthesia for Surgery 9
Seizures in Neurosurgery 7
Simple partial seizure 26
Skin irritation 12
Sore throat symptom 12
Spasticity 26
Status Epilepticus 85
Suppression of the Gag Reflex 12
Tinea Infections 10
Tinea corporis 25
Tinea pedis 30
Tonic-clonic epilepsy 47
Tonic-clonic seizure 11
Trigeminal neuralgia 13
Urethritis 10
Urinary Tract Irritation 24
Ventricular arrhythmia 14
Disease Target Count P-value
psoriasis 6685 6.1e-38
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Heart conduction disease 65 0.0 2.0
Disease Target Count Z-score Confidence
Dilated cardiomyopathy 51 0.0 5.0
Sick sinus syndrome 14 0.0 5.0
Disease Target Count Z-score Confidence
Cardiomyopathy 110 0.0 4.0
Familial atrial fibrillation 16 0.0 4.0
Disease Target Count Z-score Confidence
Heart disease 279 6.755 3.4
Short QT syndrome 12 3.833 1.9
Timothy syndrome 12 3.136 1.6

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.200 6.1e-38

Synonym

Accession Q14524 A5H1P8 A6N922 A6N923 B2RTU0 E7ET19 E9PEF3 E9PEK2 E9PFW7 Q59H93 Q75RX9 Q75RY0 Q86UR3 Q8IZC9 Q96J69
Symbols HB1
HB2
HH1
IVF
VF1
HBBD
ICCD
LQT3
SSS1
CDCD2
CMD1E
CMPD2
PFHB1
Nav1.5

Gene

PDB

2L53   4DCK   4DJC   4JQ0   4OVN   2KBI  

Protein-protein Interaction (9)

Gene RIF (452)

PMID Text
27063795 misregulation of the alternative splicing of SCN5A may contribute to a subset of the cardiac dysfunctions observed in myotonic dystrophy.
26916278 SCN5A genetic variants are linking to different cardiomyopathies (Review)
26746457 Among laboratories there was low concordance in designating SCN5A and KCNH2 variants as pathogenic. In an unselected population, the putatively pathogenic genetic variants were not associated with an abnormal phenotype.
26729167 Alkaloids from Veratrum taliense Exert Cardiovascular Toxic Effects via Cardiac Sodium Channel Subtype 1.5
26718772 Pharmacological or genetic blockade of Nav1.5 may serve as a potential anti-metastatic therapy for breast cancer.
26639179 In symptomatic patients with deleterious variants in SCN5A a permanent pacemaker and implantable cardioverter defibrillator therapy should be considered.
26636939 Role of Asparagines in Coupling the Pore and Votage-Sensor Domain in Voltage-Gated Sodium Channels
26496715 Mutational screening identified 104 mutations (44% novel), i.e. 46 KCNQ1, 54 KCNH2 and 4 SCN5A mutations for long QT syndrome in China
26452220 Authors conclude that Nav1.5 is functionally active in cancer cells in breast tumors, enhancing growth and metastatic dissemination.
26392562 Data indicate that SCN5A variant (Nav1.5) p.H1849R affected interaction with fibroblast growth factor homologous factor (FHFs).
26382759 Results show that Fyn differentially modulates Nav1.5 channel splice variants. It phosphorylates Nav1.5 variants Q-del and Q-pre resulting in there hyperpolarizing and depolarizing shift. Fyn's activity is abolished in the presence of both variants.
26361848 The SCN5A channel predominates the cardiac sodium current and mutations in SCN5A are associated with multiple cardiac diseases. Review]
26282245 SCN5A mutation in a patient with Sinus node dysfunction and epinephrine-induced QT prolongation was identified , which was an atypical phenotype for Long Qt Syndrome 3 .
26209461 Nav1.5 is encoded by the SCN5A gene that in its mutated form is implicated in various channelopathies, specifically at cardiac tissue level. (Review)
26154754 The prevalence of SCN5A mutations in the Chinese Han population in Taiwan may be lower than that reported in the Caucasian populations.
26146998 CC genotype of the rs11720524 polymorphism in the SCN5A gene encoding a subunit of the cardiac voltage-gated sodium channel occurred more frequently in the highly heterogeneous cardiac death cohort compared to the control population
26129877 We found a rare SCN5A variant, R986Q, in patients with lone AF.
26118593 Demonstrated the prevalence of SCN5A mutations and polymorphisms in a Taiwanese population with Long QT Syndrome.
26111534 We identified an association between sinus node dysfunction, atrial arrhythmias, elevated or fluctuating poor pacemaker capture, and SCN5A mutations (5 heterozygous and 1 homozygous) that are predicted to cause severely compromised NaV1.5 function.
26031372 SCN5A missense mutation is responsible for the atypical Brugada syndrome.
26009199 Current evidence shows that Cx43 plays a crucial role in organizing microtubules at the intercalated disc and thereby regulating the trafficking of the cardiac sodium channel NaV1.5 to the membrane
25998140 SCN5A gene mutations that reduce sodium channel current may provide a mechanistic link between Atrioventricular nodal reentrant tachycardia and Brugada syndrome and predispose to expression of both phenotypes.
25923670 The splice variant and environmental factors affect the molecular phenotype of cardiac SCN5A-encoded sodium channel (Nav1.5), has implications for the clinical phenotype, and may provide insight into acidosis-induced arrhythmia mechanisms.
25904541 Data indicate that electrophysiology studies agree on the phenotypic manifestations of Brugada syndrome and Long-QT syndrome-associated voltage-gated sodium channel subunit alpha Nav1.5 (SCN5A) nonsynonymous single nucleotide variants (nsSNVs).
25871451 An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders.
25815641 CaMKII phosphorylates SCN5A in vitro on 23 novel serine sites as was identified by mass spectrometry; reduced S516 phosphorylation has been found in human heart failure.
25757662 In a nonreferred nationwide Danish cohort of SIDS cases, up to 5/66 (7.5%) of SIDS cases can be explained by genetic variants in the sodium channel complex genes.
25721215 Fully-glycosylated state of Nav1.5 seems to determine its functionality whereas core-glycosylated forms might be transported to the plasma membrane through an unconventional Golgi-independent secretory route.
25692452 Modest differences in cardiotoxicity between local anesthetics, bupivacaine and ropivacaine, are compatible with subtle differences in their interaction with human cardiac SCN5A channels.
25624448 The findings suggest that the gating pore current generated by the R222Q and R225W mutations could constitute the underlying pathological mechanism that links Na(v)1.5 voltage-sensor domain (VSD) mutations with human cardiac arrhythmias and dilatation of cardiac chambers.
25558681 Mutation p.delKPQ 1505-1507 in SCN5A gene is risk factor not only of LQ-TS phenotype but also some of the carriers of this mutation have had LQ-TS and Brugada syndrome (combine phenotype).
25501501 Interplay between R513 methylation and S516 phosphorylation of the cardiac voltage-gated sodium channel.
25496128 Ranolazine (50 muM) inhibited Na(V)1.5 currents in breast cancer cells.
25443231 SCN5A the gene that encode respectively a- and b-subunits of the cardiac fast voltage-gated sodium channel, have been linked to atrial fibrillation.
25422141 A calcium permeable channel in Nav1.5 was used to customize blockage of the channel and to identify binding sites.
25401102 Genetic examinations of the SCN5A gene at 6 positive patients showed 6 known polymorphisms, 8 new single nucleotide point (SNP) variants located at exons, and 12 new single nucleotide point variants located at introns
25370050 CaM binds to the c-terminal of Na(v)1.5 with high affinity.
25368329 Data suggest a mechanism to link macrophage sodium channel alpha subunit SCN5A function to downstream signaling and regulation of transcription.
25341504 It is likely that the familial CACNA1C loss-of-function mutation contributes to Brugada syndrome phenotype and shorter QTc interval while the SCN5A mutation is associated with severe cardiac conduction defects.
25210054 A novel missense mutation (p.I141V) in a highly conserved region of the SCN5A gene, encoding the Nav1.5 sodium channel protein that cosegregated with the arrhythmia phenotype.
25177937 Data indicate that a significant association was found between the cardiac voltage-gated sodium channel (SCN5A) H558R polymorphism of exon 12 and Keshan disease (KSD).
25172307 The N-terminus of myocardial NaV1.5 is devoid of the initiation methionine and is acetylated at the resulting initial alanine residue in end stage heart failure.
25171853 An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill.
25102755 Association between p.E446K mutation in SCN5A gene and Dilated cardiomyopathy with mild left ventricular hypertrophy, progressive AV block, atrial fibrillation and congenital atrium septal defect in two generations was observed.
25065297 The common SCN5A variant, rs7629265, is associated with increased risk for atrial fibrillation among African Americans.
25051102 Two out of 46 (4.3%) AMI/VF+ patients revealed mutations that may be involved in Nav1.5 dysfunction and ventricular fibrillation.
25010007 A defined mechanism of SCN5A related arrhythmias.
24956219 FoxO1 is involved in the modulation of NaV1.5 expression in ischemic heart disease.
24951663 SCN5A variants is associated with cardiac conduction.
24903439 Case Report: p.Y1449C SCN5A mutation in a single family with a spectrum of cardiac phenotypes including conduction disease, Brugada syndrome and atrial arrhythmias.
24871449 High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.
24815523 Comparisons with other cardiomyopathy-associated NaV1.5 voltage sensor mutations revealed a pattern of abnormal voltage dependence of activation as a shared biophysical mechanism of the syndrome.
24795344 Myocytes sodium current densities of the R526H and S528A SCN5A mutants were significantly reduced compared with control.
24768612 Our study is the first to describe the deleterious effect of DM1 on clinical expression of a loss-of-function SCN5A mutation and to show a provoked BrS phenotype in a DM1 patient.
24762805 Familial sick sinus syndrome SCN5A mutational analysis indicated male predominance in the genetic screening of japanese patients.
24756536 reduced nNav1.5 expression significantly suppressed the proliferation and invasiveness of astrocytoma cells, indicating a new target in the molecular diagnosis and therapy of astrocytoma.
24721456 mutation rate and the arrhythmic risk are not different in the subgroups analyzed and the reason for this interindividual variability simply lies in the different anatomical location of the RVOT
24717670 Mutations in SCN5A that would be predicted to generate increased Purkinje cell automaticity are associated with high-grade ventricular ectopy and reversible dilated cardiomyopathy.
24703920 Circulating levels of SCN5A variants are strongly associated with myocardial tissue levels in heart failure patients.
24642470 SCN10A variant rs6801957, which correlated with slowed cardiac conduction, was associated with reduced SCN5A expression.
24613995 About 2% of patients with irritable bowel syndrome carry loss of function mutations in SCN5A that disrupt NaV1.5 channel function.
24599044 In a Danish family suffering from long QT syndrome, a novel missense mutation in SCN5A, changing a leucine residue into a glutamine residue at position 1786 (L1786Q), was found to be present in heterozygous form co-segregating with prolonged QT interval.
24582607 We have identified a distal truncated SCN5A mutant associated with gain- and loss-of-function effects, leading to sick sinus syndrome and genetic arrhythmias.
24581105 SCN5A missense mutation found in patient with Brugada syndrome from Bangladesh.
24573164 SCN5A missense mutations lead to the electrocardiography abnormalities seen in patients with Brugada syndrome disease.
24529773 This first comprehensive genotyping for SCN5A and related genes in the Chinese Han population with sudden unexplained nocturnal death syndrome discovered 13 mutations.
24476701 Ajmaline response in SCN5A mutation may be adverse with conduction abnormalities in Brugada pattern.
24463578 integrating sequence-based information and secondary protein structures elements may help select highly potential variants in BrS before conducting time-consuming electrophysiological studies and two novel SCN5A mutations were validated
24445991 it would be possible to identify and characterize rare variants in SCN5A that might predispose to lethal ventricular arrhythmias
24363796 the mutation (p.D1816VfsX7) resulted in a severe truncation (201 residues) of the Nav1.5 C-terminus,confirming the key role of the C-terminal domain in the expression and function of the cardiac Na(+) channel
24360055 A single-nucleotide polymorphism (SNP) associated with alterations in cardiac conduction patterns affects the transcriptional regulation of the sodium channel genes, SCN5A and SCN10A, predisposing for cardiac arrhythmias.
24317018 This finding may provide new evidence of the genetic pathogenesis of ARVD in Chinese patients, implying that the SCN5A gene should be screened in patients with ARVD and VT/VF.
24300601 Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes
24295898 Family members with R376C mutation had different phenotypes of sick sinus syndrome.
24269159 Brugada syndrome is linked to mutations in the SCN5A gene in approximately 20% of Brugada syndrome probands
24227891 A1180V is a potential risk factor for dilated cardiomyopathy.
24167619 Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.
24140416 Suggest a potential implication of Brugada syndrome in sudden death in myotonic dystrophy type 1, which may be related to missplicing of SCN5A.
24112685 Both gain and loss of function were found in SCN5A mutations in infantile fatal ventricular arrhythmias.
23995044 Mutations in LQTS-susceptibility genes were found in 38 of 40 prenatal subjects undergoing genetic testing, including 6 with SCN5A.
23963187 A1180V cardiac sodium channel mutation, expanding the spectrum of phenotypes resulting from this mutation in which biophysical study has shown a persistent late Na(+) current.
23955615 A novel SCN5A (F1775Lfs*15) mutation was identified in patients with familial sick sinus syndrome.
23936059 In women with Turner syndrome and a bQTc .432 ms, 7 had mutations in major Long QT syndrome genes (SCN5A and KCNH2) and one in a minor Long QT syndrome gene (KCNE2).
23912080 results show that protein arginine methyl transferase (PRMT)-3 and -5 methylate NaV1.5 in vitro, interact with NaV1.5 in human embryonic kidney (HEK) cells, and increase NaV1.5 current density
23902689 NaV1.5 colocalises with NHE-1 and caveolin-1 at the sites of matrix remodelling in invadopodia.
23893162 Stabilization of the S4 segments DI-R2C but not DII-R2C speeds inactivation of Nav1.5.
23872634 Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
23853484 Intronic variant in SCN5A gene seemed to be associated with sudden cardiac arrest especially in males.
23840796 SCN5A 1493delK channels that reached cell membrane showed gain-of-function aspects.
23823228 destabilized fast-inactivation and reduced charge immobilization in NaV1.5 at low pH are functionally related effects
23791817 Zebrafish expressing the human SCN5A-D1275N mutation, but not wild-type SCN5A, exhibit bradycardia, conduction-system abnormalities and premature death.
23714088 Subjects with LQT-PM may have longer QTc intervals at rest and at peak exercise and all phases of the recovery period compared to controls. Those with homozygous SNPs (SCN5A 37%) had longer resting QTc intervals when compared to heterozygotes.
23692053 Subtle alterations of Na(v)1.5 channels at arginine, resulted in cardiac arrhythmias.
23661717 The slowly conducting embryonic phenotype is maintained in fetal and adult right ventricular outflow tract and is unmasked when SCN5A function is reduced.
23656992 When human macrophage NaV1.5 splice variant is expressed in vivo in mouse macrophages, mice are protected from experimental autoimmune encephalomyelitis.
23631430 Mutations in SCN5A were associated with a higher frequency of cardiac arrest (52.6) in patients with long QT syndrome.
23612926 Brugada-like ST elevation in the inferior ECG leads or isolated conduction disturbances were found in two unrelated families and associated with two novel SCN5A mutations.
23571586 5 intrauterine fetal deaths hosted SCN5A rare nonsynonymous genetic variants that conferred in vitro electrophysiological characteristics consistent with potentially proarrhythmic phenotypes.
23558814 A new, previously unknown, mutation of the SCN5A gene has been found in the family of a malignant course long QT syndrome.
23541953 Cav3 is an important negative regulator for cardiac late sodium cutrrent via nNOS dependent direct S-nitrosylation of SCN5A.
23538271 This observation confirms the possibility that SCN5A mutations may confer susceptibility for recurrent seizure activity, supporting the emerging concept of a genetically determined cardiocerebral channelopathy.
23503384 Phenotype-genotype correlation was studied in SCN5A-positive and SCN5A-negative patients. Rare genetic variants in SCN5A gene were found in 7 of 21 Russian probands (28%).
23465283 A very high prevalence of previously SIDS-associated variants was identified in exome data from population studies.
23424222 Na(V)1.5-S1218I and R811H are novel loss-of-function mutations in the SCN5A gene causing Brugada syndrome.
23414114 High prevalence of CACNA2D1, SCN5A, and CACNB2 genetic variants in the Danish population previously associated with Brugada syndrome has been found in new exome data.
23376825 Novel mutations in SCN5A and SNTA1 jointly increase the INa current late/peak ratio and time constants of current decay.
23359282 Our results advance our understanding about the mechanism of Na(V)1.9 potentiation by G-protein signaling during inflammation.
23321620 Brugada syndrome SCN5A gene mutation carriers have a significantly increased risk of major arrhythmic events.
23308164 The study shows evidence of loss-of-function of the mutant Nav1.5 channel, which is consistent with the patient's clinical manifestation of Brugada syndrome.
23283979 Cys-373 and His-880 in Na(V)1.5 are proton sensors for use-dependent and slow inactivation and have implications in isoform-specific modulation of Na(V) channels
23277474 Our studies demonstrate a primary LQT-3 (Na+ channel) defect not influenced by the KCNH2 polymorphism and drug interactions unique to the proband that correlate with improved management of arrhythmias in the patient.
23257389 The Val110Ile mutation of SCN3B is a relatively common cause of SCN5A-negative BrS in Japan, which has a reduced sodium current because of the loss of cell surface expression of Nav1.5.
23237912 SCN5A gene mutation and abnormality is associated with long Qt syndrome development.
23200271 Two novel mutations in SCN5A were associated with pediatric sick sinus syndrome.
23168001 [review] A novel missense mutation is identified that is linked to ventricular fibrillation, early repolarization and conceealed myocardial abnormalities.
23133651 The beta1-subunit of Na(v)1.5 cardiac sodium channel is required for a dominant negative effect through alpha-alpha interaction
23123192 Several pools of NaV1.5 channels may co-exist in cardiac cells. (Review)
23036686 expression of the sodium (SCN5A) and potassium (KCND3) channels as well as the fibrosis content in the ventricles of heart failure and of non-diseased hearts under different post-mortem intervals
23008441 Two human arrhythmia variants affect Nav1.5 channel activity through posttranslational modification.
22999724 The R222Q SCN5A variant has an activating effect on sodium channel function and is associated with reversible ventricular ectopy and dilated cardiomyopathy.
22984773 Data indicate that 10.5% of patients had mutations in the SCN5A gene.
22980924 A novel deletion mutation was identified in SCN5A linked to long QT syndrome.
22952230 Each set of six transmembrane regions in Nav1.5 likely constitutes a Sig1R binding site, suggesting that the Sig1R interacts with the transmembrane regions of its binding partners.
22951351 Nav1.5 contributes to the phagocytic pathway of myelin degradation in macrophages in vivo within multiple sclerosis lesions.
22899775 Estimated heritability for isolated conduction disturbances was 91% (95% confidence interval, 80%-100%); SCN5A mutation screening identified 2 mutations in 2 patients among 97 children.
22882672 Report prevalence of SCN5A mutations in cohort of young sudden unexplained death cases.
22876298 Loss-of-function SCN5A mutations are associated with dilatation and impairment in contractile function of both ventricles that can be detected by CMR analysis.
22842345 SCN5A-SCN4B were found to be essential for positive selection of CD4(+) T cells.
22826127 The human Nav1.5 F1486 deletion associated with long QT syndrome leads to impaired sodium channel inactivation and reduced lidocaine sensitivity
22802584 Using the patch clamp technique we show that atrial myofibroblasts display a fast inward voltage gated sodium current with a density of 13.28 +/- 2.88 pA pF(-1) whereas no current was detectable in non-differentiated fibroblasts.
22795782 Mutational screening of the SCN5A gene showed that this case was a compound heterozygote for p.Ala735Val and p.Asp1792Asn missense mutants.
22766342 A new SCN5A-related cardiac syndrome, multifocal ectopic Purkinje-related premature contraction (MEPPC) was identified. The SCN5A mutation leads to a gain of function of the sodium channel responsible for excitability of the fascicular-Purkinje system.
22739120 R104W, R121W, and DeltaNter mutations abolished the sodium current I(Na) in HEK293 cells.
22722661 SkM1 biophysical properties in mesenchymal stem cells are more favorable than SCN5A in restoring fast conduction in depolarized tissue.
22721569 SCN5A V411 M mutation leads to a hyperactive sodium channel, apparently due to an increase in the probability of aperture of the mutated channel
22710484 A mutation in the voltage sensor of cardiac sodium channels can cause bigeminal arrhythmia associated with cardiomyopathy.
22685113 A high prevalence of SCN5A mutations previously associated with long QT syndrome type 3, were identified.
22682427 Autopsy of a 30 year old Japanese male who died of sudden unexpected nocturnal death syndrome attributed cause of death to a heterozygous mutation causing an R1193Q amino acid substitution in the SCN5A gene
22633666 Our study demonstrates the functional consequence of a 5' splice site of SCN5A responsible for Brugada syndrome.
22562703 Murine Scn5a locus was disrupted, and expression of human wild-type SCN5A cDNA substituted, identifying variable late I(Na) as a modulator of gender-dependent arrhythmia susceptibility.
22560601 epinephrine injection helps to distinguish silent LQTS mutation SCN5A carriers. This concerns also the LQT3 subtype
22514276 CaMKII-dependent phosphorylation of Na(V)1.5 at multiple sites (including Thr-594 and Ser-516) appears to be required to evoke loss-of-function changes in gating that could contribute to acquired Brugada syndrome-like effects in heart failure.
22486578 Electrophysiological findings indicate increased atrial arrhythmogenicity with maximal effects on both conduction and repolarization characteristics in young compared with aged transgenic Scn5a+/- mice.
22461438 Scn5a+/- hearts from transgenic mice show greater frequencies of arrhythmic endpoints with increased incidence of ventricular tachycardia compared to wild type.
22460359 A review focusing primarily on recent findings of Nav1.5 mutations associated with type 3 long QT syndrome.
22426227 map of the location of the functionally critical distal C-T (carboxy terminus) helix (H6) relative to the proximal C-T and demonstrate interactions between H6 and the EF-hand motif in the contiguous C-T; constructed a model of the predicted structured region of the carboxy terminus
22400069 Finding sugget that Foxo1 regulates Na(V)1.5 expression by directly binding the SCN5a promoter and affecting its transcriptional activity.
22370247 specific promoter variants increase the risk of severe cardiac events in heterozygous carriers of an SCN5A loss-of-function mutation
22331908 The 1.35 A structure of Ca(2+)-bound calmodulin in complex with the DIII-IV linker of Na(V)1.5 suggests that Ca(2+)/CaM destabilizes binding of the inactivation gate to its receptor, biasing inactivation toward more depolarized potentials.
22277643 Carriers had, on average, longer P-wave duration, PR, and QRS intervals and higher transmural dispersion of repolarization for Brugada syndrome.
22117993 this study provided evidence for the role of the H558R polymorphism of the SCN5A gene in increasing the susceptibility to atrial fibrillation
22101522 The activation of protein kinases can acutely regulate the intracellular distribution and molecular mobility of cardiac Na(+) channels in living cells.
22092558 These results suggest that NaV1.5 and mitochondrial-dependent calcium signaling regulate mycobacteria phagocytosis and phagosome maturation in human macrophages.
22090166 Genetic testing reveals disease-causing mutations in depolarizing sodium (SCN5A) or calcium (CaCNB2b) channels in 5 infants with rapid ventricular tachycardia, conduction abnormalities, and Brugada-like syndrome.
22067152 The expression human variant of Na(V)1.5 with and without the modulating beta(1) subunit in Xenopus oocytes and Lowering extracellular pH from 7.4 to 6.0 affected a range of biophysical gating properties heretofore unreported.
22064211 The researchers report on a case of early onset arrhythmia in fetal long qt syndrome that may be associated with a SCN5A mutation.
22028457 Found reductions in heart rate and cardiac conduction and loss-of-function mutations in SCN5A in patients with idiopathic ventricular fibrillation associated with early repolarization.
21996251 hERG and hNa(V)1.5 screens run using frozen cells have statistically identical IC(50)s.
21937582 Molecular determinants of normal Na(v)1.5 expression and function. Review.
21859973 RBM25/LUC7L3-mediated abnormal SCN5A mRNA splicing reduced Na+ channel current 91.1+/-9.3% to a range known to cause sudden death.
21840964 The small peptides, spanning the H558R polymorphism, are sufficient to restore the trafficking defect of BrS-associated Na(v)1.5 mutations.
21824921 Despite producing near-normal currents in heterologous expression experiments, the D1275N SCN5A mutation is a pathological mutation that generates conduction slowing, arrhythmias, and dilated cardiomyopathy by reducing cardiac sodium current.
21705349 Expression of S216L SCN5A was associated with a 60% reduction in maximum Na(+) current (I(Na)) density, attributable to protein misfolding (rescued by mexiletine pretreatment) and moderate slowing of inactivation
21609529 Readthrough-enhancing reagents could effectively suppress nonsense mutations in SCN5A and partially restore the function of sodium channel and the expression of full-length channels.
21596231 SCN5A mutation showed strong correlation to arrhythmic dilated cardiomyopathy.
21552533 electrophysiological properties of mutant T1620K channels in the background of all known functional Na(v)1.5 splice variants in HEK293 cells
21498565 S1103Y variant in SCN5A is associated with a higher incidence of ventricular arrhythmias in blacks with heart failure and reduced ejection fraction.
21454796 Variations in the gene encoding for the major sodium channel (Na(v)1.5) in the heart, SCN5A, has been shown to cause a number of arrhythmia syndromes.
21397042 family with significant Brugada syndrome and a novel mutation in exon 23 of the SCN5A gene.This mutation may have substantial impact on the function of the cardiac sodium channel.
21393430 H(2)S activates the gastrointestinal Na(+) channel, Nav1.5, and the mechanism of action of H(2)S is partially redox independent.
21385947 The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current
21325150 SCN5A SNPs are all located in the 3' region of the gene and associated with multiple ECG traits.
21321465 study analyzed the SCN5A gene to elucidate the potential variability of clinical features in Japanese Brugada syndrome subjects; identified 8 different SCN5A mutations, including 6 novel mutations
21288276 A large-scale rearrangement of the SCN5A gene in Brugada syndrome supports an association between molecular pathology and phenotypic expression.
21273195 In Brugada syndrome, the presence of an SCN5A mutation is associated with intra-atrial conduction slowing and suppressed atrial ectopic activity. Intra-atrial conduction slowing may provide a plausible substrate for atrial fibrillation maintenance.
21185499 CNVs involving SCN5A seems to be extremely rare in LQTS.
21170089 Na(V)1.5 and NHE1 are functionally coupled and enhance the invasiveness of cancer cells by increasing H(+) efflux.
21167176 The Na(V)1.5 IQ motif interacts with the C-terminal domain (C-lobe) of calmodulin, with the N-terminal domain remaining free. The structure shows that the C-lobe adopts a semi-open conformation with the IQ motif bound in a narrow hydrophobic groove.
21167004 The biophysical findings, dependent upon common SCN5A variants, provide further evidence that these novel SCN5A rare variants are relevant for dilated cardiomyopathy.
21164104 SAP97 and dystrophin macromolecular complexes determine two pools of cardiac sodium channels Nav1.5 in cardiomyocytes.
21126620 Familial forms of BrS were observed in 41 of the 62 families (66%) and no SCN5A mutations were found in sporadic forms.
21109022 The SCN5A-H558R polymorphism might play an important role in stabilization of channel fast inactivation and may be a disease-modifying gene.
21076026 Y1767C, a novel SCN5A mutation, induced a persistent Na+ current and potentiated ranolazine inhibition of Nav1.5 channels.
21070882 Observational study of gene-disease association. (HuGE Navigator)
21063070 Observational study of genetic testing. (HuGE Navigator)
21048329 SCN5A mutations are associated with early and frequent VF recurrence, but not with initial VF episodes. This is the first report on the genotype-phenotype interaction and clinical significance of this mutation.
21048329 Observational study of gene-disease association. (HuGE Navigator)
20920651 Observational study of gene-disease association. (HuGE Navigator)
20875080 KCNH2 Arg176Trp and SCN5A Pro1090Leu were identified once in Sudden unexpected death in epilepsy cases and absent in control alleles
20875080 Observational study of gene-disease association. (HuGE Navigator)
20812931 We describe a family harboring 2 SCN5A mutations: the DeltaKPQ mutation, the "classical" gain-of-function mutation associated with Long-QT syndrome, and the I1660V mutation, a loss-of-function mutation associated with Brugada syndrome.
20724705 Altering the oxidized to reduced NAD(H) balance can activate mitochondrial reactive oxygen species production, leading to reduced I(Na) via SCN5A
20651255 Data established a role of SCN5A as a regulator of a colon cancer invasion network, involving genes that encompass Wnt signaling, cell migration, ectoderm development, response to biotic stimulus, steroid metabolic process, and cell cycle control.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20618077 Alternative promoter usage and splicing of the human SCN5A gene contribute to transcript heterogeneity.
20609320 genetic analysis could be helpful in the presymptomatic diagnosis of Brugada syndrome, but may be less useful for stratifying the risk of adverse events
20586826 Observational study of gene-disease association. (HuGE Navigator)
20539757 study indicates that multiple molecular mechanisms, including gating abnormalities, trafficking defects, or a combination of both, are responsible for SCN5A-related familial sick sinus syndrome
20470418 Observational study of gene-disease association. (HuGE Navigator)
20403459 There is sufficient evidence to conclude that A572D-SCN5A is not an independent LQT3-causative mutation. Epidemiologic, molecular and functional evidence suggests that A572D is functionally aberrant but nonpathogenic.
20403459 Observational study of gene-disease association. (HuGE Navigator)
20400777 Two common intronic variants in KCNQ1 and SCN5A were associated with sudden cardiac death in individuals of European ancestry.
20400777 Observational study of gene-disease association. (HuGE Navigator)
20395683 novel SCN5A mutation (R121W) afflicted by sick sinus syndrome, progressive cardiac conduction disorder, atrial flutter and ventricular tachycardia
20386770 Observational study of gene-disease association. (HuGE Navigator)
20384651 We conclude that polymorphism H558R has mutation-specific effects on SCN5A-related sick sinus syndrome
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20372843 Abnormal expression of Nav1.5 could be an integral component of the metastatic process in human ovarian cancer.
20339117 The sodium channel blocker mexiletine may facilitate trafficking of mutant SCN5A proteins, thus exacerbating QT prolongation.
20219395 Oxidative stress is elevated in the myocardium of patients with Brugada-type electrocardiogram who have ventricular fibrillation episodes and do not have SCN5A gene mutations.
20201937 Observational study of gene-disease association. (HuGE Navigator)
20174578 Studies indicate that Scn5a(+/-) mice show similar phenotypic heterogeneity as SCN5A-mutated patients.
20147455 Our observations suggest that the upregulated expression of Nav1.5 in astrocytes may provide a compensatory mechanism, which supports sodium/potassium pump-dependent ionic homoeostasis in areas of central nervous system injury.
20129283 In this case-control study, the researchers found that 21% of Brugada Syndrome probands had SCN5A mutations compared to only 2% to 5% in a control group.
20116193 Observational study of gene-disease association. (HuGE Navigator)
20110800 This is the first report of an epidemiological survey and SCN5A gene screening in sudden unexplained nocturnal death syndrome (SUNDS) in the Han population of China.
20110800 Observational study of gene-disease association. (HuGE Navigator)
20108749 Observational study of gene-disease association. (HuGE Navigator)
20102920 Increased risk cardiac events and mortality associated with long QT syndrome type 3 with deletional vs missense mutations of SCN5A.
20090423 If stretch-modulated Na(V)1.5 current routinely contributes to cardiac mechanoelectric feedback, then during hemodynamic load variations, the abnormal stretch-modulated components of R1623Q and R1626P current could be pro-arrhythmic.
20062060 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20038812 study showed that a paroxysmal extreme pain disorder mutation in the Nav1.7 channel, a paramyotonia congenita mutation in the Nav1.4 channel & a long-QT3/SIDS mutation in the NAV1.5 channel all increased the amplitude of resurgent sodium currents
20031634 SCN5A mutations are not direct cause of Brugada syndrome.
20025708 A novel SCN5A mutation, P1008S, was identified in all family members displaying first-degree atrioventricular block, but not in unaffected family members nor in 430 reference alleles.
20009079 Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
20004937 Observational study of gene-disease association. (HuGE Navigator)
19948241 Activity-dependent positive feedback mediated by protein kinase a plays an important role in the functional expression of nNav1.5 in breast cancer.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19861310 Enhanced tubulin polymerization reduces sarcolemmal Na(v)1.5 expression and I(Na) amplitude in a beta1-subunit-independent fashion and causes I(Na) fast and slow inactivation impairment in a beta1-subunit-dependent way
19845816 the functional role of Nav1.5 in propagation and depolarization both in a normal- and in a pathophysiological setting (Review)
19843921 Exercise aggravated the ECG phenotype in BrS. The presence of an SCN5A mutation was associated with further conduction slowing at fast heart rates.
19843919 In dLQTS subjects, 1 SCN5A heterozygous missense mutation was identified.
19841300 Observational study of gene-disease association. (HuGE Navigator)
19822451 Our results suggest that the transcription of the SCN5A Dip.D variant may be associated with arrhythmogenic diseases that can induce sudden death.
19822451 Observational study of gene-disease association. (HuGE Navigator)
19808664 Results demonstrate that calcium-dependent calmodulin binding to the sodium channel inactivation gate double tyrosine motif is required for calcium regulation of the cardiac sodium channel.
19808432 Case Report: Demonstrate molecular basis for malignant perinatal presentation of long-QT syndrome, illustrate novel SCN5A-G1631D, which caused the disorder, and reveal benefits of propranolol block of mutant sodium channels.
19808398 A1180V expresses mild Na(+) channel phenotype in vitro and clinical phenotype in unaffected mutation carriers, implying that A1180V caused structural heart disease in affected carriers by disturbing Na(+) influx and cellular Na(+) homeostasis.
19745168 Mutations of GPD1-L may downregulate Na(v)1.5 by altering the oxidized to reduced NAD(H) balance.
19719504 Observational study of gene-disease association. (HuGE Navigator)
19716085 The researchers found evidence of SCN5A mutations in a cohort of patients with long QT syndrome.
19716085 Observational study of gene-disease association. (HuGE Navigator)
19706159 The A551T mutation reduced Nav1.5 activity by promoting channel entry into fast inactivation from the closed state, shifting the steady-state inactivation curve by -5 mV. The DI-DII linker may be involved in inactivation-gating-process stability.
19698999 The properties of the voltage-gated Na+ current found in a microglial cell line derived from the human central nervous system suggests that this current is predominantly mediated by the cardiac sodium channel Na(v)1.5.
19666841 GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.
19661462 Reprot the use of lidocaine and benzocaine to link SCN5A channel molecular conformations to state-dependent antiarrhythmic drug affinity.
19632628 The investigators evaluated the relationship between SCN5A mutations, Brugada syndrome, and ventricular fibrillation and found evidence of loss of rate-dependent QT dynamics in cases of ventricular fibrillation in Brugada syndrome.
19551538 Observational study of gene-disease association. (HuGE Navigator)
19549036 The common variant H558R seems to be a genetic modulator of Brugada syndrome among carriers of a SCN5A mutation, in whom the presence of the less common allele G improves the ECG characteristics and clinical phenotype.
19549036 Observational study of gene-disease association. (HuGE Navigator)
19419784 A mutation between the III and IV domains of Na(v)1.5 is associated with fatal long QT syndrome in a newborn infant.
19412328 Observational study of gene-disease association. (HuGE Navigator)
19406494 Novel mutations in SCN5A are a frequent underlying cause of Brugada syndrome in patients of Greek origin.
19389651 The PR interval and its subcomponents showed substantial heritability in a South Pacific islander population and were associated with common genetic variation in SCN5A.
19389651 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19377070 Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels.
19376164 These results suggest that Nav1.5 channels in human and rat brains are encoded by new variants of Nav1.5/SCN5A and Nav1.5 is more widely distributed and expressed than previously thought.
19345130 We describe the first sodium channel mutation to be associated with the development of an arrhythmic storm during acute ischemia. These findings suggest that a loss of function in SCN5A may predispose to ischemia induced arrhythmic storm.
19340536 The auxiliary beta(1) subunit modulates I(NaL), produced by the human cardiac Na(+) channel Na(v)1.5 by slowing its decay and increasing I(NaL) amplitude relative to I(NaT).
19324308 Patients without SCN5A mutation often had PVCs of LBBB, inferior-axis morphology, suggesting a right ventricular outflow tract origin. Patients with SCN5A mutations had PVCs that originated from both the right and left ventricles.
19324308 Observational study of gene-disease association. (HuGE Navigator)
19322600 Observational study of gene-disease association. (HuGE Navigator)
19318916 the anaphylactic reaction that occurred in the young man could serve as a trigger mechanism, responsible for his sudden death with a SCN5A mutation associated with the Brugada syndrome.
19305639 Atrial fibrillatory rate obtained from the surface ECG is not determined by SCN5A genotype.
19305639 Observational study of gene-disease association. (HuGE Navigator)
19305409 Genome-wide association study of gene-disease association. (HuGE Navigator)
19305408 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
19302788 sudden infant death syndrome was secondary to the long QT syndrome type 3-associated S1333Y mutation of SCN5A
19279232 Na(+) channels represent a new addition to the large number of voltage-gated ion channels modulated by sigma-receptors
19272188 Results report three novel SCN5A mutations identified in patients with Brugada syndrome in Taiwan.
19255801 Anti-Nav1.5 antibody selectivity was demonstrated in transfected HEK293 cells.
19251209 in loss-of-function SCN5A channelopathies patients carrying T and M(inactive) mutations develop a more severe phenotype than those with M(active) mutations
19251209 Observational study of gene-disease association. (HuGE Navigator)
19224165 Nav1.5 functional expression potentiated the invasive behavior of human breast cancer cell line MDA-MB-231 by increasing the secretion of MMP-9.
19171938 mutation of the IQ domain (A1924T; Brugada Syndrome) that reduces CaM binding stabilizes Na(V)1.5 inactivation, similarly and more extensively than even reducing [Ca(2+)](i).
19167345 A novel SCN5A coding variant, K1493R, located six amino acids downstream from the fast inactivation motif of sodium channels was idetified in atrial fibrillation.
19149796 Observational study of gene-disease association. (HuGE Navigator)
19121811 The functional characteristics and the electrophysiological consequences of the mutations did not enter into the decision "ICD versus other therapies without ICD," and a SCN5A mutation was sufficient to dictate ICD implant.
19083750 sequence variations in the 3' untranslated region (3'UTR) and 5' untranslated region (5'UTR) of the SCN5A gene were observed in sudden unexplained death
19075524 novel nonsense mutation (R179X) of SCN5A in ventricular fibrillation in Brugada syndrome
19074138 Solution NMR structure of the C-terminal EF-hand domain of human cardiac sodium channel NaV1.5
19056759 G298S-SCN5A missense mutation caused a marked reduction of whole cell Na(+) current and loss of function of Na(v)1.5, suggesting SCN5A as a candidate gene in the pathophysiology of irritable bowel syndrome.
19056759 Observational study of gene-disease association. (HuGE Navigator)
19027780 Outlines the currently known SCN5A mutations linked to three distinct cardiac rhythm disorders: long QT syndrome subtype 3 (LQT3), Brugada syndrome (BS), and cardiac conduction disease (CCD). Review.
19026623 Observational study of genetic testing. (HuGE Navigator)
18977767 Expression of skeletal SkM1 but not cardiac SCN5A Na+ channel isoform preserves normal conduction in a depolarized cardiac syncytium.
18929331 This is the first report showing an association of familial AF and LQT-3 due to a mutation in SCN5A
18929244 SCN5A mutation causes a familial form of atrial fibrillation without any underlying structural heart disease.
18848812 SCN5A/R43Q variant, although it per se does not prolong repolarization, contributes to the development of ventricular tachyarrhythmias after lidocaine.
18803136 In post-MI patients two exonic polymorphisms, H558R in SCN5A and S38G in KCNE1, were detected. H558R was associated with an increase in QT dispersion at minimum and maximum heart rate and QT interval prolongation before premature ventricular beats.
18803136 Observational study of gene-disease association. (HuGE Navigator)
18752142 Observational study of gene-disease association. (HuGE Navigator)
18708744 A novel LQT-3 mutation in SCN5A disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences.
18690024 Report the irreversible block of cardiac mutant Nav1.5 channels by batrachotoxin.
18676988 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18674739 The effect of 3 ion channel gene single nucleotide polymorphisms (SNPs), rs1805127, rs727957 KCNE1, and rs1805124 SCN5A, on T-wave alternans during a clinical exercise test, was examined.
18674739 Observational study of gene-disease association. (HuGE Navigator)
18657562 The independence of the effects of ProTxII on activation and inactivation of sodium channels is reported.
18616619 Clinical consequences of the novel R878C mutation; correlation with the results of physiological studies
18596570 Report cardiac SCN5A gene mutations in sudden infant death syndrome.
18596570 Observational study of gene-disease association. (HuGE Navigator)
18591664 These results establish an SNTA1-based nNOS complex attached to SCN5A as a key regulator of sodium current and suggest that SNTA1 be considered a rare long QT syndrome-susceptibility gene.
18503232 It is unlikely that an intragenic interaction between R1232W and T1620M of SCN5A causes a trafficking defect leading to a non-functioning Na channel
18456723 In Brugada syndroms subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.
18452875 This study provides an independent assessment of the prevalence of S1103Y-SCN5A among African-American infants with sudden, unexpected, unexplained death prior to their first birthday
18452875 Observational study of gene-disease association. (HuGE Navigator)
18452871 Observational study of gene-disease association. (HuGE Navigator)
18451998 the E1784K mutation in SCN5A may have a role in mixed clinical phenotype of type 3 long QT syndrome
18436145 overview of current knowledge on SCN5A mutations associated with sodium channel overlap syndromes [review]
18426444 Observational study of gene-disease association. (HuGE Navigator)
18408010 telethonin is a sodium channel-interacting protein, and its mutations can alter Na(v)1.5 kinetics and may play a role in intestinal pseudo-obstruction
18393272 Results provide an electrophysiological comparison of 'neonatal' and 'adult' isoforms of Nav1.5, and describe the critical involvement of a lysine residue.
18378609 8 new variants affecting higly conserved residues were identified. The new variants cosegregated with AF. 11 rare missense variants were also seen. Mutations or rare variants in SCN5A may predispose patients w/wo underlying heart disease to AF.
18378609 Observational study of gene-disease association. (HuGE Navigator)
18368697 The left ventricular noncompaction patients with heart failure also had high occurrence of SCN5A variants, suggesting the presence of SCN5A variants and/or arrhythmias increase the severity of LVNC.
18368697 Observational study of gene-disease association. (HuGE Navigator)
18362431 The 87A allele might be associated with an increased risk of idiopathic ventricular arrhythmia in females, whereas 1673G allele might have been positively selected because of its protective effects against ventricular arrhythmia in males.
18362431 Observational study of gene-disease association. (HuGE Navigator)
18355654 SCN5A, a gene encoding the cardiac sodium channel, has been reported to be causally related to BrS
18355654 Observational study of gene-disease association. (HuGE Navigator)
18252757 Mutations of the C-terminal domain of SCN5A alter the inactivation of the channel and support the notion that conduction alterations may play a significant role in the pathogenesis of Brugada syndrome.
18245395 SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family.
18184654 in cardiomyocytes, MOG1 is mostly localized in the cell membrane and co-localized with Nav1.5, indicating that MOG1 is a critical regulator of sodium channel function in the heart
18156160 reports the case of a family in which the occurrence of Brugada syndrome and isolated cardiac conduction disease could be due to the P1438L SCN5A mutation, but also to the accidental association of both diseases.
18088563 The researchers found a single SCN5A mutation association with arrhythmia in a familial cohort with atrial fibrillation, which suggests this variation in the SCN5A gene is not a significant cause of familial atrial fibrillation
18071069 Functionally significant mutations and rare variants in SCN5A may contribute to sudden cardiac death risk among women
18065446 Describe combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac SCN5A sodium channel.
18048769 the divergent biophysical defects caused by 2 different SCN5A mutations associated with familial dilated cardiomyopathy.
18040022 REVIEW of role of SCN5a mrna levels and mrna genetic variation in congestive heart failure
17967977 A GPD1-L mutation decreases SCN5A surface membrane expression, reduces inward Na+ current, and causes Brugada syndrome
17928536 V930 in D2-S6 appears to be an important structural determinant of slow inactivation gating.
17905336 Observational study of genotype prevalence. (HuGE Navigator)
17901361 chronic HF was associated with an increase in 2 truncated SCN5A variants and a decrease in the native mRNA
17897635 The SCN5A mutation has a marked loss-of-function and unique phenotype of sick sinus syndrome, cardiac conduction disorder and ventricular tachycardia with incomplete penetrance.
17854786 The DIIIS4-S5 linker is a new region involved in slow inactivation of Na(v)1.5. The biophysical alterations of the G1319V mutation all contribute to a reduction in I(Na), in line with the proposed mechanism underlying Brugada syndrome.
17697823 conduction slowing was more marked and more progressively accentuated in Brugada probands with SCN5A mutation than in those without SCN5A mutation.
17675083 Results suggest that a subclinical mutation in SCN5A resulting in a loss of function may predispose to life-threatening arrhythmias during acute ischemia.
17605181 mutations in SCN5A gene, which codes the alpha-subunit of the sodium channel Na(v)1.5 makes it possible to more fully consider possible ways of the development of cardiac rhythm disorders and use the most optimal methods for their treatment.
17556197 Observational study of genotype prevalence. (HuGE Navigator)
17556197 Finds evidence that large genomic rearrangements in SCN5A are not associated with Brugada syndrome.
17548620 We demonstrate that the cardiac voltage-gated sodium channel, NaV1.5, is expressed on the late endosome in human monocyte-derived macrophages.
17544529 In Australians <35 years with a negative autopsy at sudden death, nine DNA sequence variants were identified int he SCN5A gene.
17544529 Observational study of gene-disease association. (HuGE Navigator)
17534376 Observational study of gene-disease association. (HuGE Navigator)
17510181 The positions of the S4s in domains III and IV of SCN5A are major determinants of the voltage dependence of lidocaine affinity.
17496023 Human heart Nav1.5 pore alpha-subunit in xenopus oocytes measure small macroscopic currents in cell-attached patches.
17363383 Electrostatic repulsion is critical component of the mechanism of local anesthetic block of the SCN5A sodium channel.
17331104 A common SCN5A polymorphism, S524Y, can enhance a use-dependent block by class Ia and Ic antiarrhythmic agents.
17275752 Observational study of gene-disease association. (HuGE Navigator)
17227473 Study confirms that some Brugada syndrome patients without exonic mutations in SCN5A had no other SCN5A abnormalities, including any involving the location of the SCN5A protein.
17210841 Our present results greatly expand the spectrum of functionally characterized SCN5A variants associated with sudden infant death syndrome and provide further biophysical correlates of arrhythmia susceptibility in this syndrome.
17210839 Observational study of gene-disease association. (HuGE Navigator)
17210839 We demonstrated that 9.5% of cases diagnosed as SIDS carry functionally significant genetic variants in LQTS genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CAV3).
17205354 Residue hNav1.5-S401 at D1S6 is facing the inner cavity and is in close proximity to the receptor sites for batrachotoxin and for local anesthetics.
17198989 a novel threonine-to-isoleucine missense mutation at position 353 (T353I) adjacent to the pore-lining region of domain I of the cardiac sodium channel (SCN5A) in a family with Brugada syndrome
17185997 Observational study of gene-disease association. (HuGE Navigator)
17161064 Observational study of gene-disease association. (HuGE Navigator)
17161064 Six novel mutations--4 in ANK2, 1 in KCNQ1, and 1 in SCN5A--were found in the patients with torsades de pointes.
17141278 The SCN5A (W1191X) mutation is associated with Brugada syndrome and resulted in the loss of function of the cardiac sodium channel.
17075016 Compound heterozygous mutations Pro336Leu and Ile1660Val of SCN5A modulate the phenotypic expression and penetrance of Brugada syndrome.
17070808 local anesthetic's (LA) cationic group and a Na+ ion in the selectivity filter repel each other suggesting that the Na+ depletion upon slow inactivation would stabilize a LA, while a LA would stabilize slow-inactivated states
16980337 The AP abnormalities induced by Y1795H and Y1795C can explain the clinically observed surface ECG phenotype.
16930557 The protein tyrosine phosphatase PTPH1 binds to the PDZ-domain binding motif of the cardiac voltage-gated sodium channel Na(v)1 and regulates the activity of Na(v)1.
16880338 Persons who inherit polymorphisms of the SCN5A gene have a loss of function mutation of the gene and more severe forms of Brugada syndrome.
16877553 The findings also suggest how Brugada syndrome and PCCD which both result from loss of sodium channel function are sometimes present alone and at other times in combination.
16873405 We demonstrate that a pH-independent current is found in Na(V)1.4, but not in the cardiac isoform (Na(V)1.5).
16864729 The R282H-SCN5A mutation in the sodium channel gene was identified in patients with Brugada syndrome.
16857961 Dystrophin protein complex is required for the proper expression and function of Na(v)1.5 in mice.
16847056 Data show that the varied effects of beta1 and beta2 on Nav1.5 and Nav1.2 gating are apparently synergistic and highlight the complex manner, through subunit- and sugar-dependent mechanisms, by which Nav activity is modulated.
16818214 Observational study of genetic testing. (HuGE Navigator)
16771953 Observational study of gene-disease association. (HuGE Navigator)
16731473 Observational study of gene-disease association. (HuGE Navigator)
16728661 14-3-3 protein is a novel component of the cardiac Na(v)1.5 channel acting as a cofactor for the regulation of the cardiac sodium ion current.
16674915 We propose that D2-S6 in hNav1.5 undergoes molecular rearrangement during slow inactivation exposing the side chain of residue 930 such that it becomes accessible to modification by MTSEA.
16643374 Human genetic studies have identified mutations in the sodium channel SCN5A gene causing tachyarrhythmia disorders, as well as progressive cardiac conduction system diseases, or overlapping syndromes.
16632547 These data show that a trafficking defect (SCN5A mutation) may be partial and time dependent and may differ with the splice variant background. Expression defects and gating abnormalities may contribute to loss of function for the same mutation.
16505387 comprehensive model is proposed in which the hH1 IQ motif serves as a molecular switch, coupling the intrinsic and extrinsic calcium sensors
16469732 describes a novel splice variant of Na1.5 that could be detected in all human heart RNA samples investigated; characterized by altered Na+ current amplitude and gating
16453024 Observational study of gene-disease association. (HuGE Navigator)
16453024 data show that mutant SCN5A channels operate normally under baseline conditions in vitro but abnormally under reduced pH conditions; findings suggest that infants with 2 copies of S1103Y have a 24-fold increased risk for sudden infant death syndrome
16426410 Mutations in the SCN5A gene can cause Brugada syndrome, a genetically inherited form of idiopathic ventricular fibrillation.
16415376 Observational study of gene-disease association. (HuGE Navigator)
16415376 genetically determined variable sodium channel transcription occurs in the human heart and is associated with variable conduction velocity, an important contributor to arrhythmia susceptibility
16414944 Observational study of genotype prevalence and genetic testing. (HuGE Navigator)
16344400 Mutations in the SCN5A gene, identified in 4 of the 18 patients with Brugada syndrome, may have induced concealed structural abnormalities of myocardiocytes that accounted for paroxysmal arrhythmic manifestations.
16325048 Brugada plus bradyarrhythmias type of overlap syndrome was caused by single SCN5A mutations that result in a complete loss-of-function in cardiac Na channels.
16301357 new mechanism in the drug-induced long-QT syndrome also strongly supports the concept that variable cell surface expression contributes to clinical variability in the LQT3 phenotype
16254012 dynamic action potential clamp data directly demonstrate the arrhythmogenic nature of LQT3-associated SCN5A mutations
16207794 Data demonstrate that the double mutations at the 409 and 410 sites in cardiac Na(+) channels induce inactivation-deficient sodium currents (INa) and that n-3 polyunsaturated fatty acids inhibit mutant I(Na).
16188595 Genetic defects in SCN5A most likely underlie atrial standstill.
16132053 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16132053 This suggests that genetic determinants located in KCNQ1, KCNE1, KCNH2 and SCN5A influence QTc length in healthy individuals and may represent risk factors for arrhythmias or cardiac sudden death in patients with cardiovascular diseases.
16115203 These results suggest that SCN5A has a newly identified exon for alternative splicing and is more widely expressed than previously thought.
16061851 Up-regulation of neonatal Na(v)1.5 occurs as an integral part of the metastatic process in human breast cancer
16061744 Observational study of gene-disease association. (HuGE Navigator)
16061744 The Y1102 allele is a risk factor in blacks for sudden cardiac death in the absence of obvious morphological findings or mild to moderate cardiomegaly.
15996170 Observational study of gene-disease association. (HuGE Navigator)
15910881 a human cardiac sodium channel mutation(E161K) may have a role in sick sinus syndrome, conduction disease and Brugada syndrome
15863661 Observational study of genotype prevalence. (HuGE Navigator)
15851320 Observational study of genotype prevalence. (HuGE Navigator)
15851227 Observational study of genotype prevalence. (HuGE Navigator)
15851119 Observational study of genotype prevalence. (HuGE Navigator)
15840476 Observational study of gene-disease association. (HuGE Navigator)
15828879 Brugada syndrome is an inherited cardiac disorder caused by mutations in the SCN5A gene encoding the cardiac sodium channel alpha-subunit, and potentially leads to ventricular fibrillation and sudden death.
15808832 A novel intronic mutation in the SCN5A gene in a large family with Brugada syndrome was identified.
15805167 mechanisms for S1759 involvement in slow inactivation and for antagonism between fast and slow inactivation
15746172 Chimeric channels of NaV1.4 and NaV1.5 also indicated that the C-terminal domain is largely responsible for calmodulin effects on inactivation
15671429 Heritable SCN5A defects are associated with susceptibility to early-onset DCM and atrial fibrillation. Similar or even identical mutations may lead to heart failure, arrhythmia, or both.
15665061 Phenylalanine deletion alters the voltage dependence of fast inactivation via a reduction in the gating charge.
15579534 ankyrin-G participates in a common pathway for localization of voltage-gated Na(v) channels at sites of function in multiple excitable cell types
15534720 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
15504354 Acute and chronic cell hypoxia regulate sodium currents by recombinant hNa(v)1.5 alpha.
15466643 A heterozygous G-to-A mutation at position 3823(D1275N) in a highly conserved residue of exon 21 is associated with an autosomal dominant cardiac conduction disorder, sinus node dysfunction, arrhythmia, ventricular dilatation & dysfunction.
15367556 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
15338453 Observational study of genotype prevalence. (HuGE Navigator)
15338453 report of a novel mutation in SCN5A associated with Brugada syndrome in Koreans
15316014 Calmodulin mediates Ca2+ sensitivity of Nav1.2 and Nav1.5 sodium channels
15306732 SCN5A gene is not commonly involved in the pathogenesis of the Brugada Syndrome and associated disorders.
15277732 Two novel SCN5A mutations have been found in Japanese patients with Brugada syndrome.
15217910 Na(v)1.5 can be ubiquitinated in heart tissues and that the ubiquitin-protein ligase Nedd4-2 acts on Na(v)1.5 by decreasing the channel density at the cell surface. The effect of Nedd4-2 requires the PY-motif of Nav1.5.
15176425 Observational study of genotype prevalence. (HuGE Navigator)
15161528 Observational study of gene-disease association. (HuGE Navigator)
15057319 Mutations in the SCN5A gene encoding the cardiac voltage-gated Na+ channel (hNav1.5) are associated with Brugada syndrome.
15051636 Observational study of gene-disease association. (HuGE Navigator)
14985827 Observational study of genotype prevalence. (HuGE Navigator)
14961552 Observational study of gene-disease association and genetic testing. (HuGE Navigator)
14760488 Observational study of gene-disease association. (HuGE Navigator)
14720472 SCN5A the gene encoding the pore-forming subunit of the cardiac Na+ channel, have been associated with cardiac rhythm syndromes.
14654377 A base sequence deletion in SCN5A causes long QT syndrome in two family members.
14500339 Four variants of SCN5A are present in human myocardium and exhibit functional differences having implications for the choice of background sequence for experiments with heterologous expression systems, and possibly electrophysiological function in vivo
12820704 missense mutations in KCNQ1 and SCN5A in a case of congenital Long QT Syndrome
12639704 Another gene other than the SCN5A may be associated with Brugada syndrome.
12574983 Congenital long QT syndrome and 2:1 atrioventricular block may be due to mutation of the SCN5A gene (LQT3).
12569159 SCN5A mutation is modulated by the SCN5a polymorphism in humans
12522116 Familial Atrial standstill was associated with the concurrence of a cardiac sodium channel mutation and rare polymorphisms in the atrial-specific Cx40 gene
12471205 SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family
12431447 Early & late openings in cell-attached patches expressing human cardiac NaCh alpha-subunit & in ventricular cells of one normal & three failing human hearts showed that the late current is generated by a single population of channels in both.
12429735 regulation of gating by syntrophin gamma 2
12358675 SCN5A is more widely distributed than previously thought and encodes the pore-forming alpha-subunit of the tetrodotoxin-resistant Na+ current in jejunum smooth muscle cells.
12208804 Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation
12193783 identified a variant of the cardiac sodium channel gene SCN5A that is associated with arrhythmia in African Americans and linked with arrhythmia risk in an African-American family
12106943 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
12106943 Longer conduction intervals on baseline ECG were observed in patients with established SCN5A mutations. Brugada-syndrome patients with and without SCN5A mutations can be differentiated by phenotypical differences.
12051963 three new SCN5A mutations in Brugada syndrome patients are all located within domain I of SCN5A, a region not previously considered important in the development of ventricular arrhythmias
11997281 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
11960580 Associated with Brugada syndrome, but patients may not have known mutation.
11823453 Mutation analysis seems to show SUNDS of Asia and Brugada syndrome of Europe are phenotypically and genetically the same.
11786529 Results support the concept that loss of function of the cardiac Na(+) channel is responsible for the Brugada syndrome.
11748104 A G-to-T mutation at position 4372 was identified by direct sequencing and was predicted to change a glycine for an arginine (G1406R) between the DIII-S5 and DIII-S6 domain of the SCN5A sodium channel protein.
11743032 Observational study of gene-disease association, genetic testing, and healthcare-related. (HuGE Navigator)
11289718 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
11136691 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEEAPRPQLDLQASKKLPDLYGN      1 - 70
PPQELIGEPLEDLDPFYSTQKTFIVLNKGKTIFRFSATNALYVLSPFHPIRRAAVKILVHSLFNMLIMCT     71 - 140
ILTNCVFMAQHDPPPWTKYVEYTFTAIYTFESLVKILARGFCLHAFTFLRDPWNWLDFSVIIMAYTTEFV    141 - 210
DLGNVSALRTFRVLRALKTISVISGLKTIVGALIQSVKKLADVMVLTVFCLSVFALIGLQLFMGNLRHKC    211 - 280
VRNFTALNGTNGSVEADGLVWESLDLYLSDPENYLLKNGTSDVLLCGNSSDAGTCPEGYRCLKAGENPDH    281 - 350
GYTSFDSFAWAFLALFRLMTQDCWERLYQQTLRSAGKIYMIFFMLVIFLGSFYLVNLILAVVAMAYEEQN    351 - 420
QATIAETEEKEKRFQEAMEMLKKEHEALTIRGVDTVSRSSLEMSPLAPVNSHERRSKRRKRMSSGTEECG    421 - 490
EDRLPKSDSEDGPRAMNHLSLTRGLSRTSMKPRSSRGSIFTFRRRDLGSEADFADDENSTAGESESHHTS    491 - 560
LLVPWPLRRTSAQGQPSPGTSAPGHALHGKKNSTVDCNGVVSLLGAGDPEATSPGSHLLRPVMLEHPPDT    561 - 630
TTPSEEPGGPQMLTSQAPCVDGFEEPGARQRALSAVSVLTSALEELEESRHKCPPCWNRLAQRYLIWECC    631 - 700
PLWMSIKQGVKLVVMDPFTDLTITMCIVLNTLFMALEHYNMTSEFEEMLQVGNLVFTGIFTAEMTFKIIA    701 - 770
LDPYYYFQQGWNIFDSIIVILSLMELGLSRMSNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVGALG    771 - 840
NLTLVLAIIVFIFAVVGMQLFGKNYSELRDSDSGLLPRWHMMDFFHAFLIIFRILCGEWIETMWDCMEVS    841 - 910
GQSLCLLVFLLVMVIGNLVVLNLFLALLLSSFSADNLTAPDEDREMNNLQLALARIQRGLRFVKRTTWDF    911 - 980
CCGLLRQRPQKPAALAAQGQLPSCIATPYSPPPPETEKVPPTRKETRFEEGEQPGQGTPGDPEPVCVPIA    981 - 1050
VAESDTDDQEEDEENSLGTEEESSKQQESQPVSGGPEAPPDSRTWSQVSATASSEAEASASQADWRQQWK   1051 - 1120
AEPQAPGCGETPEDSCSEGSTADMTNTAELLEQIPDLGQDVKDPEDCFTEGCVRRCPCCAVDTTQAPGKV   1121 - 1190
WWRLRKTCYHIVEHSWFETFIIFMILLSSGALAFEDIYLEERKTIKVLLEYADKMFTYVFVLEMLLKWVA   1191 - 1260
YGFKKYFTNAWCWLDFLIVDVSLVSLVANTLGFAEMGPIKSLRTLRALRPLRALSRFEGMRVVVNALVGA   1261 - 1330
IPSIMNVLLVCLIFWLIFSIMGVNLFAGKFGRCINQTEGDLPLNYTIVNNKSQCESLNLTGELYWTKVKV   1331 - 1400
NFDNVGAGYLALLQVATFKGWMDIMYAAVDSRGYEEQPQWEYNLYMYIYFVIFIIFGSFFTLNLFIGVII   1401 - 1470
DNFNQQKKKLGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKYQGFIFDIVTKQAFDVTIMFLICL   1471 - 1540
NMVTMMVETDDQSPEKINILAKINLLFVAIFTGECIVKLAALRHYYFTNSWNIFDFVVVILSIVGTVLSD   1541 - 1610
IIQKYFFSPTLFRVIRLARIGRILRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMANFA   1611 - 1680
YVKWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDPTLPNSNGSRGDCGSPAVGIL   1681 - 1750
FFTTYIIISFLIVVNMYIAIILENFSVATEESTEPLSEDDFDMFYEIWEKFDPEATQFIEYSVLSDFADA   1751 - 1820
LSEPLRIAKPNQISLINMDLPMVSGDRIHCMDILFAFTKRVLGESGEMDALKIQMEEKFMAANPSKISYE   1821 - 1890
PITTTLRRKHEEVSAMVIQRAFRRHLLQRSLKHASFLFRQQAGSGLSEEDAPEREGLIAYVMSENFSRPL   1891 - 1960
GPPSSSSISSTSFPPSYDSVTRATSDNLQVRGSDYSHSEDLADFPPSPDRDRESIV                 1961 - 2016
//

Text Mined References (503)

PMID Year Title
27063795 2016 Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.
26916278 2016 The role of mutations in the SCN5A gene in cardiomyopathies.
26776555 2016 SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.
26746457 2016 Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
26729167 2015 Alkaloids from Veratrum taliense Exert Cardiovascular Toxic Effects via Cardiac Sodium Channel Subtype 1.5.
26718772 2016 Blockade of voltage-gated sodium channels inhibits invasion of endocrine-resistant breast cancer cells.
26639179 2016 MY APPROACH to genetic testing in cardiology practice.
26636939 2015 Important Role of Asparagines in Coupling the Pore and Votage-Sensor Domain in Voltage-Gated Sodium Channels.
26496715 2016 Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction.
26452220 2015 Nav1.5 regulates breast tumor growth and metastatic dissemination in vivo.
26392562 2015 SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.
26382759 2015 Differential modulation of fast inactivation in cardiac sodium channel splice variants by Fyn tyrosine kinase.
26361848 2015 The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.
26282245 2016 Cardiac sodium channel mutation associated with epinephrine-induced QT prolongation and sinus node dysfunction.
26279430 2015 De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
26209461 2015 The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology.
26154754 2015 Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan.
26146998 2015 A Common Polymorphism of the Human Cardiac Sodium Channel Alpha Subunit (SCN5A) Gene Is Associated with Sudden Cardiac Death in Chronic Ischemic Heart Disease.
26129877 2015 Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation.
26118593 2015 Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients.
26111534 2015 Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.
26031372 2015 Enhanced fast-inactivated state stability of cardiac sodium channels by a novel voltage sensor SCN5A mutation, R1632C, as a cause of atypical Brugada syndrome.
26009199 2015 Gap junctions - guards of excitability.
25998140 2015 High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.
25923670 2015 Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis.
25904541 2015 Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
25871451 2015 An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders.
25815641 2015 CaMKII Phosphorylation of Na(V)1.5: Novel in Vitro Sites Identified by Mass Spectrometry and Reduced S516 Phosphorylation in Human Heart Failure.
25757662 2015 The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome.
25721215 2015 Nav1.5 channels can reach the plasma membrane through distinct N-glycosylation states.
25692452 2015 A Comparative Analysis of Bupivacaine and Ropivacaine Effects on Human Cardiac SCN5A Channels.
25624448 2015 Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy.
25558681 2014 [Clinical polymorphisms and approaches of arrhythmias treatment in a family with ?KPQ1505-1507 deletion in SCN5A gene].
25501501 2015 Interplay between R513 methylation and S516 phosphorylation of the cardiac voltage-gated sodium channel.
25496128 2014 Ranolazine inhibits NaV1.5-mediated breast cancer cell invasiveness and lung colonization.
25443231 2014 Risk factors and genetics of atrial fibrillation.
25422141 2015 Reporting sodium channel activity using calcium flux: pharmacological promiscuity of cardiac Nav1.5.
25401102 2014 Genetic diversity of SCN5A gene and its possible association with the concealed form of Brugada syndrome development in Polish group of patients.
25370050 2014 Regulation of the NaV1.5 cytoplasmic domain by calmodulin.
25368329 2014 Human macrophage SCN5A activates an innate immune signaling pathway for antiviral host defense.
25341504 2014 Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.
25210054 2014 Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias.
25177937 2014 H558R polymorphism in SCN5A is associated with Keshan disease and QRS prolongation in Keshan disease patients.
25172307 2014 Identification of N-terminal protein acetylation and arginine methylation of the voltage-gated sodium channel in end-stage heart failure human heart.
25171853 2014 Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease.
25102755 2014 [Dilated cardiomyopathy caused by p.E446K mutation in SCN5A gene].
25065297 2014 A common SCN5A variant is associated with PR interval and atrial fibrillation among African Americans.
25051102 2014 SCN5A mutations and polymorphisms in patients with ventricular fibrillation during acute myocardial infarction.
25035420 2014 Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
25010007 2014 Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.
24998131 2014 Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.
24956219 2014 Deletion of FoxO1 leads to shortening of QRS by increasing Na(+) channel activity through enhanced expression of both cardiac NaV1.5 and ?3 subunit.
24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
24951663 2014 Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.
24903439 2015 p.Y1449C SCN5A mutation associated with overlap disorder comprising conduction disease, Brugada syndrome, and atrial flutter.
24898004 2014 Gating-pore currents demonstrate selective and specific modulation of individual sodium channel voltage-sensors by biological toxins.
24871449 2014 High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.
24850809 2014 Genetic determinants of P wave duration and PR segment.
24815523 2014 Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.
24795344 2014 A mutation causing Brugada syndrome identifies a mechanism for altered autonomic and oxidant regulation of cardiac sodium currents.
24768612 2014 Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation.
24762805 2014 Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.
24756536 2014 Expression of neonatal Nav1.5 in human brain astrocytoma and its effect on proliferation, invasion and apoptosis of astrocytoma cells.
24721456 2014 A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: validation of the 2013 diagnostic criteria.
24717670 2014 Genetic testing in cardiovascular diseases.
24703920 2014 Enhanced risk profiling of implanted defibrillator shocks with circulating SCN5A mRNA splicing variants: a pilot trial.
24642470 2014 A common genetic variant within SCN10A modulates cardiac SCN5A expression.
24613995 2014 Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome.
24599044 2014 Flecainide provocation reveals concealed brugada syndrome in a long QT syndrome family with a novel L1786Q mutation in SCN5A.
24582607 2014 A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation.
24581105 Brugada syndrome with a novel missense mutation in SCN5A gene: a case report from Bangladesh.
24573164 2014 Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.
24529773 2014 Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder?
24476701 2014 Malignant response to ajmaline challenge in SCN5A mutation carriers: experience from a large familial study.
24463578 2014 Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.
24445991 2014 A rare loss-of-function SCN5A variant is associated with lidocaine-induced ventricular fibrillation.
24363796 2013 Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family.
24360055 2014 From GWAS to function: genetic variation in sodium channel gene enhancer influences electrical patterning.
24317018 2014 SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia.
24300601 2014 Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link?
24295898 2014 Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete.
24269159 [Genetic and molecular basis for sodium channel-mediated Brugada syndrome].
24227891 2013 A1180V of cardiac sodium channel gene (SCN5A): is it a risk factor for dilated cardiomyopathy or just a common variant in Han Chinese?
24167619 2013 Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.
24140416 2013 Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1.
24112685 2014 Cardiac channelopathies associated with infantile fatal ventricular arrhythmias: from the cradle to the bench.
23995044 2013 Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome.
23963187 2014 The SCN5A mutation A1180V is associated with electrocardiographic features of LQT3.
23955615 2013 A novel SCN5A mutation demonstrating a variety of clinical phenotypes in familial sick sinus syndrome.
23936059 2013 Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations.
23912080 2013 Protein arginine methyl transferases-3 and -5 increase cell surface expression of cardiac sodium channel.
23902689 2013 NaV1.5 Na? channels allosterically regulate the NHE-1 exchanger and promote the activity of breast cancer cell invadopodia.
23893162 2013 Outward stabilization of the voltage sensor in domain II but not domain I speeds inactivation of voltage-gated sodium channels.
23872634 2013 Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
23853484 2013 Genetic mutation in Korean patients of sudden cardiac arrest as a surrogating marker of idiopathic ventricular arrhythmia.
23840796 2013 A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.
23823228 2013 Extracellular protons inhibit charge immobilization in the cardiac voltage-gated sodium channel.
23791817 2013 A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death.
23714088 2013 Do LQTS gene single nucleotide polymorphisms alter QTc intervals at rest and during exercise stress testing?
23692053 2013 Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias.
23661717 2013 Reduced sodium channel function unmasks residual embryonic slow conduction in the adult right ventricular outflow tract.
23656992 2013 Mediation of protection and recovery from experimental autoimmune encephalomyelitis by macrophages expressing the human voltage-gated sodium channel NaV1.5.
23631430 2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
23612926 2013 Novel SCN5A mutations in two families with "Brugada-like" ST elevation in the inferior leads and conduction disturbances.
23571586 2013 Long QT syndrome-associated mutations in intrauterine fetal death.
23558814 2013 Congenital long QT syndrome of particularly malignant course connected with so far unknown mutation in the sodium channel SCN5A gene.
23541953 2013 Caveolin-3 suppresses late sodium current by inhibiting nNOS-dependent S-nitrosylation of SCN5A.
23538271 2013 Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.
23503384 2013 [Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene].
23465283 2013 Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.
23463857 2013 Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.
23424222 2013 Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.
23420830 2013 MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.
23414114 2013 High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.
23376825 2013 Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.
23359282 2013 Mechanism of sodium channel NaV1.9 potentiation by G-protein signaling.
23321620 2013 Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.
23308164 2013 A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.
23283979 2013 Proton sensors in the pore domain of the cardiac voltage-gated sodium channel.
23277474 2013 Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics.
23257389 2013 Novel SCN3B mutation associated with brugada syndrome affects intracellular trafficking and function of Nav1.5.
23237912 2013 A case of long QT syndrome with triple gene abnormalities: digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1.
23200271 2013 Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A.
23168001 2013 SCN5A mutation associated with ventricular fibrillation, early repolarization, and concealed myocardial abnormalities.
23139255 2012 Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.
23133651 2012 The ?1-subunit of Na(v)1.5 cardiac sodium channel is required for a dominant negative effect through ?-? interaction.
23123192 2013 Cardiac sodium channel NaV1.5 distribution in myocytes via interacting proteins: the multiple pool model.
23092124 2012 Mass spectrometry-based identification of native cardiac Nav1.5 channel ? subunit phosphorylation sites.
23085483 2013 p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.
23036686 Analysis of the arrhythmogenic substrate in human heart failure.
23008441 2012 Ca2+/calmodulin-dependent protein kinase II-based regulation of voltage-gated Na+ channel in cardiac disease.
22999724 2012 R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.
22984773 2013 A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.
22980924 2013 Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome.
22952230 2012 The sigma-1 receptor binds to the Nav1.5 voltage-gated Na+ channel with 4-fold symmetry.
22951351 2013 Nav1.5 sodium channels in macrophages in multiple sclerosis lesions.
22899775 2012 Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.
22882672 2012 The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases.
22876298 2012 SCN5A mutations in Brugada syndrome are associated with increased cardiac dimensions and reduced contractility.
22842345 2012 A voltage-gated sodium channel is essential for the positive selection of CD4(+) T cells.
22826127 2012 The human Nav1.5 F1486 deletion associated with long QT syndrome leads to impaired sodium channel inactivation and reduced lidocaine sensitivity.
22802584 2012 A distinct de novo expression of Nav1.5 sodium channels in human atrial fibroblasts differentiated into myofibroblasts.
22795782 2012 [Cardiac sinus node dysfunction due to a new mutation of the SCN5A gene].
22766342 2012 Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.
22739120 2012 Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 ?-subunits.
22722661 2012 Effect of skeletal muscle Na(+) channel delivered via a cell platform on cardiac conduction and arrhythmia induction.
22721569 2012 Flecainide, a therapeutic option in a patient with long QT syndrome type 3 caused by the heterozygous V411M mutation in the SCN5A gene.
22710484 2012 Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.
22705208 2012 Crystal structure of the ternary complex of a NaV C-terminal domain, a fibroblast growth factor homologous factor, and calmodulin.
22685113 2012 High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation.
22682427 2012 An autopsy case of sudden unexpected nocturnal death syndrome with R1193Q polymorphism in the SCN5A gene.
22633666 2012 A novel 5' splice site mutation of SCN5A associated with Brugada syndrome resulting in multiple cryptic transcripts.
22562703 2012 Increased late sodium current contributes to long QT-related arrhythmia susceptibility in female mice.
22560601 T-wave morphology after epinephrine bolus may reveal silent long QT syndrome mutation carriers.
22529811 2012 Mexiletine differentially restores the trafficking defects caused by two brugada syndrome mutations.
22514276 2012 Ca2+/calmodulin-dependent protein kinase II (CaMKII) regulates cardiac sodium channel NaV1.5 gating by multiple phosphorylation sites.
22486578 2012 The age-dependence of atrial arrhythmogenicity in Scn5a+/- murine hearts reflects alterations in action potential propagation and recovery.
22461438 2012 Nonlinearity between action potential alternans and restitution, which both predict ventricular arrhythmic properties in Scn5a+/- and wild-type murine hearts.
22460359 2012 Cardiac sodium channel Nav1.5 mutations and cardiac arrhythmia.
22426227 2012 Perturbation of sodium channel structure by an inherited Long QT Syndrome mutation.
22400069 2012 Reactive oxygen species suppress cardiac NaV1.5 expression through Foxo1.
22370247 2012 Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation.
22331908 2012 Crystallographic basis for calcium regulation of sodium channels.
22277643 2012 Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome.
22247482 2012 A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.
22117993 2011 Polymorphism H558R in the human cardiac sodium channel SCN5A gene is associated with atrial fibrillation.
22101522 2012 Activation of protein kinase C alters the intracellular distribution and mobility of cardiac Na+ channels.
22092558 2011 The human macrophage sodium channel NaV1.5 regulates mycobacteria processing through organelle polarization and localized calcium oscillations.
22090166 2012 Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay.
22067152 2011 Extracellular proton modulation of the cardiac voltage-gated sodium channel, Nav1.5.
22064211 2012 Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia.
22028457 2011 Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization.
21996251 Utility of frozen cell lines in medium throughput electrophysiology screening of hERG and NaV1.5 blockade.
21937582 2012 Biology of cardiac sodium channel Nav1.5 expression.
21895525 2011 Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A.
21859973 2011 Role of RBM25/LUC7L3 in abnormal cardiac sodium channel splicing regulation in human heart failure.
21840964 2011 A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.
21824921 2011 Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro.
21817159 2011 Fibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine hearts.
21726068 2011 The cardiac sodium channel is post-translationally modified by arginine methylation.
21705349 2011 A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.
21609529 2011 [Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels W822X].
21596231 2011 SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.
21552533 2011 Alternative splicing of the cardiac sodium channel creates multiple variants of mutant T1620K channels.
21498565 2011 The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction.
21454796 2011 Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
21397042 2011 New familial heterozygous c 4066_4068 delTT 2 bp deletion of the SCN5A gene causing Brugada syndrome.
21393430 2011 Hydrogen sulfide is a partially redox-independent activator of the human jejunum Na+ channel, Nav1.5.
21385947 2011 The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current.
21347284 2011 Genome-wide association studies of the PR interval in African Americans.
21325150 2011 SCN5A variation is associated with electrocardiographic traits in the Jackson Heart Study.
21321465 2011 Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.
21288276 2011 Brugada syndrome caused by a large deletion in SCN5A only detected by multiplex ligation-dependent probe amplification.
21273195 2011 Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome.
21185499 2011 Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.
21170089 2011 Na(V)1.5 enhances breast cancer cell invasiveness by increasing NHE1-dependent H(+) efflux in caveolae.
21167176 2011 Solution NMR structure of Apo-calmodulin in complex with the IQ motif of human cardiac sodium channel NaV1.5.
21167004 2010 SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.
21164104 2011 SAP97 and dystrophin macromolecular complexes determine two pools of cardiac sodium channels Nav1.5 in cardiomyocytes.
21126620 2010 Prospective evaluation of the familial prevalence of the brugada syndrome.
21109022 2011 A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.
21076409 2010 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
21076026 2011 Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels.
21070882 2011 Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds.
21063070 2010 Cardiac ion channel gene mutations in Greek long QT syndrome patients.
21051419 2011 Mutations in sodium channel ?-subunit SCN3B are associated with early-onset lone atrial fibrillation.
21048329 2010 SCN5A mutation is associated with early and frequent recurrence of ventricular fibrillation in patients with Brugada syndrome.
20920651 2010 Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testing.
20875080 2011 Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.
20812931 2011 Sodium channelopathies: do we really understand what's going on?
20724705 2010 Reactive oxygen species originating from mitochondria regulate the cardiac sodium channel.
20651255 2010 Voltage-gated Na+ channel SCN5A is a key regulator of a gene transcriptional network that controls colon cancer invasion.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20618077 2010 Alternative promoter usage and splicing of the human SCN5A gene contribute to transcript heterogeneity.
20609320 2010 The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients.
20586826 2010 The P-selectin gene polymorphism Val168Met: a novel risk marker for the occurrence of primary ventricular fibrillation during acute myocardial infarction.
20539757 2010 Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.
20470418 2010 SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr.
20403459 2010 Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.
20400777 2010 Common variants in cardiac ion channel genes are associated with sudden cardiac death.
20398673 2010 Structure and function of splice variants of the cardiac voltage-gated sodium channel Na(v)1.5.
20395683 2010 Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation.
20386770 2010 Torsades de pointes during complete atrioventricular block: Genetic factors and electrocardiogram correlates.
20384651 2010 Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20372843 2010 Expression of voltage-gated sodium channel alpha subunit in human ovarian cancer.
20339117 2010 Trafficking defects and gating abnormalities of a novel SCN5A mutation question gene-specific therapy in long QT syndrome type 3.
20219395 Elevated oxidative stress is associated with ventricular fibrillation episodes in patients with Brugada-type electrocardiogram without SCN5A mutation.
20201937 2010 Common susceptibility variants examined for association with dilated cardiomyopathy.
20174578 2010 Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model.
20147455 2010 Astrocytes within multiple sclerosis lesions upregulate sodium channel Nav1.5.
20129283 2010 An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
20116193 2010 The response of the QT interval to the brief tachycardia provoked by standing: a bedside test for diagnosing long QT syndrome.
20110800 2011 Sudden unexplained nocturnal death syndrome in Southern China: an epidemiological survey and SCN5A gene screening.
20108749 The electrocardiographic abnormalities in highly trained athletes compared to the genetic study related to causes of unexpected sudden cardiac death.
20102920 2010 Mutation-specific risk in two genetic forms of type 3 long QT syndrome.
20090423 Impaired stretch modulation in potentially lethal cardiac sodium channel mutants.
20062063 2010 Several common variants modulate heart rate, PR interval and QRS duration.
20062060 2010 Genome-wide association study of PR interval.
20042427 2010 Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation.
20038812 2010 Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.
20031634 2009 SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome.
20025708 2010 Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome.
20009079 2009 Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.
20004937 2010 Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus.
19948241 2010 Protein kinase A and regulation of neonatal Nav1.5 expression in human breast cancer cells: activity-dependent positive feedback and cellular migration.
19943616 2010 Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19861310 2010 Tubulin polymerization modifies cardiac sodium channel expression and gating.
19845816 2010 Inherited cardiac diseases caused by mutations in the Nav1.5 sodium channel.
19843921 2009 Exercise-induced ECG changes in Brugada syndrome.
19843919 2009 Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.
19841300 2009 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
19822451 2009 Diplotype analysis of the human cardiac sodium channel regulatory region in Japanese cases of sudden death by unknown causes.
19808664 2009 A double tyrosine motif in the cardiac sodium channel domain III-IV linker couples calcium-dependent calmodulin binding to inactivation gating.
19808477 2009 Mutations in sodium channel ?1- and ?2-subunits associated with atrial fibrillation.
19808432 2008 Malignant perinatal variant of long-QT syndrome caused by a profoundly dysfunctional cardiac sodium channel.
19808398 2008 Molecular and clinical characterization of a novel SCN5A mutation associated with atrioventricular block and dilated cardiomyopathy.
19745168 2009 Cardiac Na+ current regulation by pyridine nucleotides.
19719504 2009 A nonsense SCN5A mutation associated with Brugada-type electrocardiogram and intraventricular conduction defects.
19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
19706159 2009 Characterization of a novel Nav1.5 channel mutation, A551T, associated with Brugada syndrome.
19698999 2009 Na(v)1.5 sodium channels in a human microglial cell line.
19666841 2009 GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.
19661462 2009 Using lidocaine and benzocaine to link sodium channel molecular conformations to state-dependent antiarrhythmic drug affinity.
19632628 2009 Abnormal transmural repolarization process in patients with Brugada syndrome.
19551538 2009 Depressive symptoms in the congenital long QT syndrome.
19549036 2009 Genetic modulation of brugada syndrome by a common polymorphism.
19419784 2010 A novel SCN5A mutation associated with the linker between III and IV domains of Nav1.5 in a neonate with fatal long QT syndrome.
19412328 2008 Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.
19406494 2010 Novel sodium channel SCN5A mutations in Brugada syndrome patients from Greece.
19389651 2009 Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.
19377070 2009 Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression of cardiac Na+ channels.
19376164 2009 Analysis of four novel variants of Nav1.5/SCN5A cloned from the brain.
19345130 2009 SCN5A mutation associated with acute myocardial infarction.
19340536 2009 Late Na+ current produced by human cardiac Na+ channel isoform Nav1.5 is modulated by its beta1 subunit.
19324308 2009 Differential effects of cardiac sodium channel mutations on initiation of ventricular arrhythmias in patients with Brugada syndrome.
19322600 2009 Contribution of long-QT syndrome genetic variants in sudden infant death syndrome.
19318916 2009 Immunohistochemical marker for Na+ CP type Valpha (C-20) and heterozygous nonsense SCN5A mutation W822X in a sudden cardiac death induced by mild anaphylactic reaction.
19305639 2009 A genotype-dependent intermediate ECG phenotype in patients with persistent lone atrial fibrillation genotype ECG-phenotype correlation in atrial fibrillation.
19305409 2009 Common variants at ten loci modulate the QT interval duration in the QTSCD Study.
19305408 2009 Common variants at ten loci influence QT interval duration in the QTGEN Study.
19302788 2009 Biophysical characterization of a new SCN5A mutation S1333Y in a SIDS infant linked to long QT syndrome.
19279232 2009 Voltage-gated sodium channel modulation by sigma-receptors in cardiac myocytes and heterologous systems.
19272188 2009 Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.
19255801 2009 The cardiac sodium channel displays differential distribution in the conduction system and transmural heterogeneity in the murine ventricular myocardium.
19251209 2009 Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
19224165 2009 Functional expression of voltage-gated sodium channels Nav1.5 in human breast cancer cell line MDA-MB-231.
19171938 2009 Functional Interactions between Distinct Sodium Channel Cytoplasmic Domains through the Action of Calmodulin.
19167345 2009 Gain-of-function mutation of Nav1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing.
19149796 2009 Relationship between genetic variants in myocardial sodium and potassium channel genes and QT interval duration in diabetics: the Diabetes Heart Study.
19121811 2009 All LQT3 patients need an ICD: true or false?
19083750 2007 Mutations in the SCN5A gene: evidence for a link between long QT syndrome and sudden death?
19075524 2009 Dynamic change in ST-segment and spontaneous occurrence of ventricular fibrillation in Brugada syndrome with a novel nonsense mutation in the SCN5A gene during long-term follow-up.
19074138 2009 Solution NMR structure of the C-terminal EF-hand domain of human cardiac sodium channel NaV1.5.
19056759 2009 Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy.
19027780 SCN5A channelopathies--an update on mutations and mechanisms.
19026623 2009 Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.
18977767 2009 Expression of skeletal but not cardiac Na+ channel isoform preserves normal conduction in a depolarized cardiac syncytium.
18929331 2008 A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.
18929244 2008 A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation.
18848812 2008 In utero onset of long QT syndrome with atrioventricular block and spontaneous or lidocaine-induced ventricular tachycardia: compound effects of hERG pore region mutation and SCN5A N-terminus variant.
18803136 2008 The association between SCN5A, KCNQ1 and KCNE1 gene polymorphisms and complex ventricular arrhythmias in survivors of myocardial infarction.
18752142 2008 Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
18708744 A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences.
18690024 Irreversible block of cardiac mutant Na+ channels by batrachotoxin.
18676988 2008 A high-density association screen of 155 ion transport genes for involvement with common migraine.
18674739 2008 Effect of common KCNE1 and SCN5A ion channel gene variants on T-wave alternans, a marker of cardiac repolarization, during clinical exercise stress test: the Finnish Cardiovascular Study.
18657562 2008 Evidence for multiple effects of ProTxII on activation gating in Na(V)1.5.
18616619 2008 Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.
18599870 2008 Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel.
18596570 2008 Cardiac ion channel gene mutations in sudden infant death syndrome.
18591664 2008 Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.
18503232 2008 Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome.
18456723 2008 Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.
18452875 2008 Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome.
18452871 2008 Polymorphisms in multiple genes are associated with resting heart rate in a stepwise allele-dependent manner.
18451998 2008 The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
18436145 2008 Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.
18426444 2008 Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.
18408010 2008 A mutation in telethonin alters Nav1.5 function.
18393272 2008 Alternative splicing of Nav1.5: an electrophysiological comparison of 'neonatal' and 'adult' isoforms and critical involvement of a lysine residue.
18378609 2008 Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.
18368697 2008 SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.
18362431 2008 Association of human SCN5A polymorphisms with idiopathic ventricular arrhythmia in a Chinese Han cohort.
18355654 2008 Atrial fibrillation in patients with Brugada syndrome relationships of gene mutation, electrophysiology, and clinical backgrounds.
18341814 2007 [Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome].
18252757 2008 Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.
18245395 2008 SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family.
18184654 2008 Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5.
18156160 2008 The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases.
18088563 2008 Cardiac sodium channel mutation in atrial fibrillation.
18071069 2008 Cardiac sodium channel gene variants and sudden cardiac death in women.
18065446 2008 Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel.
18060054 2007 A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.
18048769 2008 Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia.
18040022 2007 Fading sodium channels in failing hearts.
17967977 2007 Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.
17928536 2007 Relative resistance to slow inactivation of human cardiac Na+ channel hNav1.5 is reversed by lysine or glutamine substitution at V930 in D2-S6.
17905336 2007 Long QT and Brugada syndrome gene mutations in New Zealand.
17901361 2007 Human heart failure is associated with abnormal C-terminal splicing variants in the cardiac sodium channel.
17897635 2007 A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.
17854786 2007 Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation.
17697823 2007 Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands.
17675083 2007 Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction.
17605181 2007 [The clinical variability of and approaches to treatment of life-threatening ventricular arrhythmias caused by SCN5A gene mutations].
17592081 2007 SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome.
17556197 2007 Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.
17548620 2007 Expression of the voltage-gated sodium channel NaV1.5 in the macrophage late endosome regulates endosomal acidification.
17544529 2008 Postmortem molecular analysis of KCNQ1 and SCN5A genes in sudden unexplained death in young Australians.
17534376 2007 Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects.
17510181 2007 Outward stabilization of the S4 segments in domains III and IV enhances lidocaine block of sodium channels.
17496023 2007 Nav channel mechanosensitivity: activation and inactivation accelerate reversibly with stretch.
17363383 2007 Charge at the lidocaine binding site residue Phe-1759 affects permeation in human cardiac voltage-gated sodium channels.
17331104 2007 A common SCN5A variant alters the responsiveness of human sodium channels to class I antiarrhythmic agents.
17275752 2007 Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition.
17227473 2007 Non-SCN5A related Brugada syndromes: verification of normal splicing and trafficking of SCN5A without exonic mutations.
17210841 2007 Cardiac sodium channel dysfunction in sudden infant death syndrome.
17210839 2007 Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.
17205354 2007 Serine-401 as a batrachotoxin- and local anesthetic-sensing residue in the human cardiac Na+ channel.
17198989 2007 A sodium channel pore mutation causing Brugada syndrome.
17185997 2007 A common polymorphism in SCN5A is associated with lone atrial fibrillation.
17161064 2006 Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes.
17141278 2007 A novel mutation in the SCN5A gene is associated with Brugada syndrome.
17081365 2006 [Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].
17075016 2006 Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome.
17070808 2006 Atomic determinants of state-dependent block of sodium channels by charged local anesthetics and benzocaine.
17060380 2006 Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
16980337 2007 In silico assessment of Y1795C and Y1795H SCN5A mutations: implication for inherited arrhythmogenic syndromes.
16930557 2006 Cardiac sodium channel Na(v)1.5 interacts with and is regulated by the protein tyrosine phosphatase PTPH1.
16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
16880338 2006 Molecular underpinning of "good luck".
16877553 2007 Sodium channel kinetic changes that produce Brugada syndrome or progressive cardiac conduction system disease.
16873405 2006 Isoform-dependent interaction of voltage-gated sodium channels with protons.
16864729 2006 SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.
16857961 2006 Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin.
16847056 2006 Isoform-specific effects of the beta2 subunit on voltage-gated sodium channel gating.
16818214 2006 Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results.
16771953 2006 Gastrointestinal symptoms in families of patients with an SCN5A-encoded cardiac channelopathy: evidence of an intestinal channelopathy.
16731473 2006 Allelic variants of SCN5A and risk of sudden cardiac arrest in patients with coronary artery disease.
16728661 2006 14-3-3 is a regulator of the cardiac voltage-gated sodium channel Nav1.5.
16674915 2006 Slow-inactivation induced conformational change in domain 2-segment 6 of cardiac Na+ channel.
16643374 2006 Inherited conduction system abnormalities--one group of diseases, many genes.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16637659 2006 Uncovering quantitative protein interaction networks for mouse PDZ domains using protein microarrays.
16632547 2006 Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine.
16616735 2006 A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.
16505387 2006 Calcium-dependent regulation of the voltage-gated sodium channel hH1: intrinsic and extrinsic sensors use a common molecular switch.
16469732 2006 Modulation of Nav1.5 channel function by an alternatively spliced sequence in the DII/DIII linker region.
16453024 2006 A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y.
16426410 2006 Monomorphic ventricular tachycardia due to Brugada syndrome successfully treated by hydroquinidine therapy in a 3-year-old child.
16415376 2006 Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction.
16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
16382098 2005 International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.
16344400 2005 Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome.
16325048 2005 High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.
16301357 2005 New mechanism contributing to drug-induced arrhythmia: rescue of a misprocessed LQT3 mutant.
16266370 2005 Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.
16254012 2006 Long-QT syndrome-related sodium channel mutations probed by the dynamic action potential clamp technique.
16207794 2006 Potent block of inactivation-deficient Na+ channels by n-3 polyunsaturated fatty acids.
16188595 2005 Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.
16132053 2005 Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population.
16115203 2005 Tetrodotoxin-resistant Na+ channels in human neuroblastoma cells are encoded by new variants of Nav1.5/SCN5A.
16061851 2005 Voltage-gated sodium channel expression and potentiation of human breast cancer metastasis.
16061744 2005 Role of SCN5A Y1102 polymorphism in sudden cardiac death in blacks.
16054936 2005 Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.
15996170 2005 Genetic polymorphisms and haplotypes of the human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese and their association with arrhythmia.
15910881 2005 A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families.
15863661 2005 Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
15851320 2005 Double SCN5A mutation underlying asymptomatic Brugada syndrome.
15851227 2004 Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.
15851119 2004 Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome.
15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
15828879 2005 Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A.
15808832 2005 Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome.
15805167 2005 Tryptophan substitution of a putative D4S6 gating hinge alters slow inactivation in cardiac sodium channels.
15746172 2005 Modulation of skeletal and cardiac voltage-gated sodium channels by calmodulin.
15671429 2005 Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.
15665061 2005 Reduced voltage dependence of inactivation in the SCN5A sodium channel mutation delF1617.
15579534 2004 Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.
15548568 2005 Molecular determinants of voltage-gated sodium channel regulation by the Nedd4/Nedd4-like proteins.
15534720 Beta-blocker therapy failures in symptomatic probands with genotyped long-QT syndrome.
15504354 2004 Acute and chronic hypoxic regulation of recombinant hNa(v)1.5 alpha subunits.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15466643 2004 SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.
15367556 2004 Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers.
15338453 2004 Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome.
15316014 2004 Calmodulin mediates Ca2+ sensitivity of sodium channels.
15306732 2004 Mutational screening of SCN5A linked disorders in Polish patients and their family members.
15277732 2004 Genetic analysis of Brugada syndrome in Western Japan: two novel mutations.
15217910 2004 Cardiac voltage-gated sodium channel Nav1.5 is regulated by Nedd4-2 mediated ubiquitination.
15176425 2004 Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
15161528 2004 Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome.
15057319 2004 Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.
15051636 2004 Compound mutations: a common cause of severe long-QT syndrome.
15023552 2004 A trafficking defective, Brugada syndrome-causing SCN5A mutation rescued by drugs.
14985827 2004 [Single nucleotide polymorphism in SCN5A and the distribution in Chinese Han ethnic group].
14961552 2003 Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.
14760488 2004 Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
14720472 2004 Inherited sodium channelopathies: a continuum of channel dysfunction.
14654377 2003 A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation.
14523039 2003 Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).
14500339 2003 A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels.
12820704 2003 Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A.
12673799 2003 A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating.
12639704 2003 Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects.
12574983 Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene.
12574143 2003 Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.
12569159 2003 A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.
12522116 2003 A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12471205 2002 SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family.
12454206 2003 A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.
12431447 2002 Gating of the late Na+ channel in normal and failing human myocardium.
12429735 2003 Syntrophin gamma 2 regulates SCN5A gating by a PDZ domain-mediated interaction.
12401812 2003 Modulation of the cardiac sodium channel Nav1.5 by fibroblast growth factor homologous factor 1B.
12358675 2002 SCN5A is expressed in human jejunal circular smooth muscle cells.
12209021 2002 A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.
12208804 2002 Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation.
12193783 2002 Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.
12106943 2002 Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
12051963 2002 Novel mutations in domain I of SCN5A cause Brugada syndrome.
11997281 2002 Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.
11960580 2001 Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity.
11901046 2002 Natural history of Brugada syndrome: insights for risk stratification and management.
11889015 2002 Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism.
11823453 2002 Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
11807557 2002 A calcium sensor in the sodium channel modulates cardiac excitability.
11804990 2002 Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.
11786529 2002 Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome.
11748104 2001 Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family.
11743032 2001 Long QT syndrome in children: the value of rate corrected QT interval and DNA analysis as screening tests in the general population.
11710892 2001 Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.
11410597 2001 Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.
11304498 2001 Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.
11289718 2001 Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome.
11234013 2001 A sodium-channel mutation causes isolated cardiac conduction disease.
11136691 2001 Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.
10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
10940383 2000 A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.
10911008 2000 A molecular link between the sudden infant death syndrome and the long-QT syndrome.
10690282 1999 Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.
10627139 1998 Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online.
10618304 2000 Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.
10590249 1999 A single Na(+) channel mutation causing both long-QT and Brugada syndromes.
10532948 1999 Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.
10508990 1999 Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.
10471492 1999 Cardiac conduction defects associate with mutations in SCN5A.
10377081 1999 Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
10200053 1998 A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online.
9686753 1998 Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits.
9521325 1998 Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
9506831 1998 A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.
9412493 1998 Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins.
8917568 1996 Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome.
8621719 1996 p120cbl is a major substrate of tyrosine phosphorylation upon B cell antigen receptor stimulation and interacts in vivo with Fyn and Syk tyrosine kinases, Grb2 and Shc adaptors, and the p85 subunit of phosphatidylinositol 3-kinase.
8567977 1996 Mapping a cardiomyopathy locus to chromosome 3p22-p25.
8541846 1995 Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
7956363 1995 Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21.
7889574 1995 SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome.
7842012 1994 Two long QT syndrome loci map to chromosomes 3 and 7 with evidence for further heterogeneity.
7651517 1995 Molecular mechanism for an inherited cardiac arrhythmia.
1309946 1992 Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel.