Property Summary

NCBI Gene PubMed Count 110
PubMed Score 348.20
PubTator Score 342.59

Knowledge Summary

Patent (8,777)

TINX Plot

  Disease (7)

Disease Target Count
Epilepsy 346
Administration of Local Anesthetic Nerve Block 14
Administration of Regional Anesthesia 7
Anesthesia for cesarean section 8
Bipolar affective disorder, current episode manic 13
Bipolar disorder in remission 19
Cough 21
Dysuria 24
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
Minor Skin Wound Pain 12
Mixed Epilepsy 3
Mixed bipolar I disorder 9
Motor cortex epilepsy 10
Mouth Irritation 12
Neuralgia 16
Parkinsonism 19
Partial seizure 15
Pediculosis capitis 7
Postherpetic neuralgia 12
Premature ejaculation 16
Prevent Minor Bacterial Skin Infection 10
Prevention of Seizures following Cranial Trauma or Surgery 7
Pruritus ani 14
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
Tachyarrhythmia 2
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 2.2e-16
breast carcinoma 1614 6.6e-04
osteosarcoma 7933 9.9e-04
ductal carcinoma in situ 1745 3.4e-03
invasive ductal carcinoma 2950 1.6e-02
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma -1.331 9.9e-04
breast carcinoma -1.500 6.6e-04
ductal carcinoma in situ -1.300 3.4e-03
invasive ductal carcinoma -1.400 1.6e-02
psoriasis -1.200 2.2e-16

Gene RIF (76)

PMID Text
27060299 The c.4427 T>C (p.Met1476Thr) mutation of the SCN4A gene contribute to the paramyotonia congenita.
26700687 Recessive loss-of-function SCN4A mutations were identified in congenital myopathy patients.
26494408 Computer simulations of the effects of the I693T mutation were introduced in the muscle fiber model by both hyperpolarizing shifts in the Nav1.4 channel activation and a faster recovery from slow channel inactivation
26427606 association of the genetic variability of SCN4A with the development of essential tremor
26252573 CACNA1S and SCN4A mutations are relatively rare in patients with hypokalemic periodic paralysis
26036855 These data suggest a possible involvement of SCN4A variants in the pathophysiological mechanism underlying the development of a spontaneous or drug-induced type 1 electrocardiographic pattern and the occurrence of malignant arrhythmias in some patients with Brugada syndrome.
25839108 As the result, heterozygous mutations c.2024G>A (R675Q) and c.1333G>A (V445M) of gene SCN4A were identified in the hypokalemic periodic paralysis patient and the paramyotonia congenita family respectively.
25755818 A Val1589Met mutation at exon 24 of the SCN4A gene appears in affected subjects with a mild form of paramyotonia, while healthy members had a point mutation at position 1513 at exon 24 of the SCN4A gene
25735906 Mutation analysis in the patient and in child's mother revealed a heterozygous p.N1180I mutation in exon 19 of SCN4A gene. In newborns with stiffness, peripheral contractures and myotonia, the sequence analysis of SCN4A gene should be performed.
25724373 The patient with scn4a mutation exhibited various symptoms that evolved with age, including apneic episodes, tonic muscular contractions during sleep, fluctuating severe episodic myotonia, and finally episodic paralyses.
25707578 A homozygous mutation in Nav 1.4 at position 1457 (Arg1457His) was identified in congenital myasthenic syndrome.
25660391 Electrophysiological studies of the SCN4A P72L variant showed a hyperpolarizing shift (-5 mV) of the voltage dependence of activation that may increase cell excitability
25450184 The data indicate that sialic acids attached to both N- and O-glycans residing within the Nav1.4 D1S5-S6 linker modulate channel gating through electrostatic mechanisms
25348630 report the discovery of a novel SCN4A mutation (c.1762A>G; p.I588V) in a patient with myotonia and periodic paralysis, located within the S1 segment of the second domain of the Nav1.4 channel
25311598 Patients with life-threatening laryngospasm were found to be heterozygous for the same SCN4A mutation.
24943082 Its M1592V mutation of SCN4A shares a much greater clinical diversity ranging from congenital paramyotonia to periodic paralysis with a longer duration.
24682880 SCN4A was functionally affected by R675Q mutation, a possible reason for causing normokalemic periodic paralysis.
24607901 The effect of two single mutations of a critical tyrosine residue in the filter of NaV1.4 on tetrodotoxin binding observed experimentally is reproduced using computational mutagenesis.
24549961 This work reveals a novel mechanism of disrupted S4 translocation for hypokalaemic periodic paralysis mutations at arginine residues located below the gating pore constriction of the voltage sensor module.
24324661 The study demonstrates that the hNaV1.4F1705I mutation, which is linked to cold aggravated myotonia, alters the voltage dependence of inactivation and the temperature sensitivity of current kinetics.
23771340 Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle SCN4A.
23420899 genetic study showed missense mutation (R1448C) in the voltage-gated sodium channel, type IV, alpha subunit
23417379 Non-dystrophic myotonias are characterised by muscle stiffness during voluntary movement owing to delayed skeletal muscle relaxation caused by mutation in the SCN4A skeletal muscle channel genes.
23381896 Analyses of SCN4A, a key player in myotonia, have revealed parallels between its slow-inactivation and myotonic warm-up, which suggest that SCN4A is critical not only in producing the myotonic reaction, but also in mediating the warm-up.
22914841 Nav1.4 N440K mutation causes a gain of function consistent with skeletal muscle hyperexcitability as observed in individuals with the mutation.
22653516 We found significant ocular involvement in a family with a mutation in SCN4A.
22617007 The patient presented a marked warm-up phenomenon of myotonia but the repeated short exercise test suggested mutations of the sodium channel.
22250216 Cooling can augment the disruption of the voltage dependence of fast inactivation by mutant M1476I/Nav1.4 channels
21841462 A minority of sporadic periodic paralysis patients studied have de novo CACNA1S or SCN4A mutations and may have a variant of familial periodic paralysis.
21665479 This study demonistrated that mutation of Met1592Val in the SCN4A gene is associated with aggressive development of paralysis periodica paramyotonia characterized by severe vacuolar myopathy.
21664816 L1436P mutation in the SCN4A gene causes a sodium channel myotonia with an atypical clinical presentation, characterized by late onset painful cold-aggravated myotonia
21606664 The skeletal muscle alpha-subunit NaV1.4 was transiently expressed in wild-type Chinese hamster ovary (CHO) cells
21521764 Substitutions at position 799 of the Nav1.4 channel favor the channel open state with sustained activity leading to hyperexcitability of laryngeal muscles that could be lethal during infancy.
21317558 ranolazine interacts with the open state and stabilizes the inactivated state(s) of Na(v)1.4 channels, causes voltage- and use-dependent block of I(Na) and suppresses persistent I(Na)
21099342 Anthopleurin elicited opposing effects on the gating mode, kinetics and charge immobilized during open- versus closed-state fast inactivation of Nav1.4 channels.
21043388 study detected the SCN4A R672H mutation in one hypokalemic periodic paralysis Turkish family
20713951 Severe neonatal episodic laryngospasm is a new phenotype caused by a sodium channelopathy, which can be alleviated by channel blockers.
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
19882638 This study describes the first cases of homozygosity for two missense mutations in the SCN4A gene which increases severity of muscle channelopathies.
19881885 electrostatic network interactions between S2 and other transmembrane segments within Na(v)1.4D4 are similar to but not identical to those proposed for K+ channels
19840739 confirmed missense mutation in SCN4A in myotonia congenita
19773279 Observational study of gene-disease association. (HuGE Navigator)
19347921 This study has identified a new mutation of PAM with a severe phenotype and emphasizes the importance of the C-terminus for fast inactivation of the sodium channel(nav1.4, Q1633E).
19290024 Myoblastic cells from patients with myopathy caused by mutation SCN4A Metl592Val had a weaker ability of developing into the myotubules.
19211598 The clinical guidelines proposed may help clinicians working in outpatient clinics to perform a focused genetic analysis of either CLCN1 or SCN4A.
19118277 All SCN4A mutations affected arginine residues, consistent with the gating pore cation leak hypothesis of hypokalemic periodic paralysis. Arginine mutations in S4 segments underlie 90% of hypokalemic periodic paralysis cases.
19077043 These observations of one family confirmed that tubular aggregates were associated with T704M mutations of SCN4A in paralysis periodica paramyotonica.
19015483 A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.
18726720 Results decribe the Thr704Met point mutation in the SCN4A gene in hyperkalemic periodic paralysis.
18690054 study investigated effects of paramyotonia congenita mutations F1473S and F1705I on gating of skeletal muscle Na+ channels; results suggest that the DIV S4-S5 linker mutation F1473S promotes the hyperpolarized position of DIVS4 to accelerate recovery
18337730 CLCN1 and SCN4A mutation occurrence is associated with non-dystrophic myotonia.
18337730 Observational study of genetic testing. (HuGE Navigator)
18281721 HyperPP is caused by mutations in the SCN4A gene that encodes the subunit of the NavCh Nav1.4 in skeletal muscles.
18270170 The mechanism of calmodium modulation of Nav1.4 expression an function were studied.
18166706 This study identifies two new mutations(R1448L and L1436P) confirms SCN4A as a common cause of paramyotonia congenita in the UK.
18079277 State- and use-dependent block of muscle Nav1.4 voltage-gated Na+ channel isoforms by ranolazine is reported.
18046642 In addition to Val-781-Ile and Met1592Val, the mutation g2101a (Arg675Gln) may be the novel mutation of SCN4A genes in Chinese patients with normoKPP.
17998485 A large cohort of French-Canadians with a founder SCN4A mutation causing painful cold-induced myotonia underlines the phenotypic heterogeneity of SCN4A mutations with variants in other genes such as CLCN1 that are likely to modulate clinical expression.
17898326 Consistent with other NaV1.4 mutations associated with a paralytic phenotype, the P1158S mutation disrupts slow inactivation. The unique temperature sensitivity of the channel defect may contribute to the unusual clinical phenotype.
17823953 These results indicate that, in these paramyotonia congenita patients, mutant and wild-type sodium channels respond equally to cold exposure.
17804458 HyperPP was suspected by means of clinical features and provocative testing, it was sequential genetic analysis that corroborated the diagnosis and identified a de novo mutation in the SCN4A gene.
17334961 Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.
17212350 present study has revealed a heterozygous A1481D (c.4442 C>A) missense mutation in the SCN4A gene, which was identified in family members affected with cold-aggravated myotonia in a large German kindred
17151947 Deactivation gating relies on charged ammino-acids in DIIIS4 domain.
16890191 We identified a novel hypokallemic periodic paralysis type 2 mutation that neutralizes an arginine residue in DIII-S4 (R1132Q), and studied its functional consequences in HEK cells transfected with the human SCN4A cDNA.
16870577 A missense mutation is responsible for the hypokalemic periodic paralysis in a Chinese family.
16506889 Method in which voltage dependence of voltage-gated ion channel blockers can be compared using a protocol in which voltage error is compensated for in real time.
16392038 Fast inactivation and deactivation gating were compared between wild-type human voltage-gated skeletal muscle sodium channel (hNaV1.4) and potassium-aggravated myotonia (PAM) mutations G1306A, G1306E, and G1306V.
15596759 3 new mutations were found in codon 675: an AA substitution of a highly conserved Arg to either a Gly, a Gln or a Trp. Hypokalemic periodic paralysis is caused by mutations affecting nearby codons as well as the change of an Arg into another AA.
15482957 A novel SCN4A Arg672Cys mutation and a known CACNL1A3 Arg528His mutation were identified in in Korean hypokalemic periodic paralysis patients
15459238 fast inactivation of the Na(+) channel involves both S4-S5 loops in D3 and D4 in a cooperative manner and D3/S4-S5 also plays an important role in activation and deactivation
15318338 Cold exacerbation in two paramyotonia congenita mutant NaV1.4 channels R1448C and T1313M arises from a combination of biophysical defects that increase hyperexcitability at low temperatures.
15072700 Observational study of gene-disease association. (HuGE Navigator)
14527681 charged residues in the DIII-DIV linker may interact with structures that control slow inactivation in the voltage-gated sodium channel (hNa(V)1.4) (nav1.4)
12766226 V1442E mutation in SCN4A defines a novel disease mechanism and a novel phenotype with myasthenic features.
12210802 identified the Met1592Val mutation of SCN4A in an affected descendent of the original normokalemic periodic paralysis (normoKPP) family

AA Sequence

MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQMEIEEPERKPRSDLEAGKNLPMIYGD      1 - 70
PPPEVIGIPLEDLDPYYSNKKTFIVLNKGKAIFRFSATPALYLLSPFSVVRRGAIKVLIHALFSMFIMIT     71 - 140
ILTNCVFMTMSDPPPWSKNVEYTFTGIYTFESLIKILARGFCVDDFTFLRDPWNWLDFSVIMMAYLTEFV    141 - 210
DLGNISALRTFRVLRALKTITVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKC    211 - 280
VRWPPPFNDTNTTWYSNDTWYGNDTWYGNEMWYGNDSWYANDTWNSHASWATNDTFDWDAYISDEGNFYF    281 - 350
LEGSNDALLCGNSSDAGHCPEGYECIKTGRNPNYGYTSYDTFSWAFLALFRLMTQDYWENLFQLTLRAAG    351 - 420
KTYMIFFVVIIFLGSFYLINLILAVVAMAYAEQNEATLAEDKEKEEEFQQMLEKFKKHQEELEKAKAAQA    421 - 490
LEGGEADGDPAHGKDCNGSLDTSQGEKGAPRQSSSGDSGISDAMEELEEAHQKCPPWWYKCAHKVLIWNC    491 - 560
CAPWLKFKNIIHLIVMDPFVDLGITICIVLNTLFMAMEHYPMTEHFDNVLTVGNLVFTGIFTAEMVLKLI    561 - 630
AMDPYEYFQQGWNIFDSIIVTLSLVELGLANVQGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGAL    631 - 700
GNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKIALDCNLPRWHMHDFFHSFLIVFRILCGEWIETMWDCM    701 - 770
EVAGQAMCLTVFLMVMVIGNLVVLNLFLALLLSSFSADSLAASDEDGEMNNLQIAIGRIKLGIGFAKAFL    771 - 840
LGLLHGKILSPKDIMLSLGEADGAGEAGEAGETAPEDEKKEPPEEDLKKDNHILNHMGLADGPPSSLELD    841 - 910
HLNFINNPYLTIQVPIASEESDLEMPTEEETDTFSEPEDSKKPPQPLYDGNSSVCSTADYKPPEEDPEEQ    911 - 980
AEENPEGEQPEECFTEACVQRWPCLYVDISQGRGKKWWTLRRACFKIVEHNWFETFIVFMILLSSGALAF    981 - 1050
EDIYIEQRRVIRTILEYADKVFTYIFIMEMLLKWVAYGFKVYFTNAWCWLDFLIVDVSIISLVANWLGYS   1051 - 1120
ELGPIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYYCI   1121 - 1190
NTTTSERFDISEVNNKSECESLMHTGQVRWLNVKVNYDNVGLGYLSLLQVATFKGWMDIMYAAVDSREKE   1191 - 1260
EQPQYEVNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYYNAMKKLGSKK   1261 - 1330
PQKPIPRPQNKIQGMVYDLVTKQAFDITIMILICLNMVTMMVETDNQSQLKVDILYNINMIFIIIFTGEC   1331 - 1400
VLKMLALRQYYFTVGWNIFDFVVVILSIVGLALSDLIQKYFVSPTLFRVIRLARIGRVLRLIRGAKGIRT   1401 - 1470
LLFALMMSLPALFNIGLLLFLVMFIYSIFGMSNFAYVKKESGIDDMFNFETFGNSIICLFEITTSAGWDG   1471 - 1540
LLNPILNSGPPDCDPNLENPGTSVKGDCGNPSIGICFFCSYIIISFLIVVNMYIAIILENFNVATEESSE   1541 - 1610
PLGEDDFEMFYETWEKFDPDATQFIAYSRLSDFVDTLQEPLRIAKPNKIKLITLDLPMVPGDKIHCLDIL   1611 - 1680
FALTKEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRKHEEVCAIKIQRAYRRHLLQRSMKQA   1681 - 1750
SYMYRHSHDGSGDDAPEKEGLLANTMSKMYGHENGNSSSPSPEEKGEAGDAGPTMGLMPISPSDTAWPPA   1751 - 1820
PPPGQTVRPGVKESLV                                                         1821 - 1836
//

Text Mined References (119)

PMID Year Title
27060299 2016 [Paramyotonia congenita caused by a novel mutation of SCN4A gene in a Chinese family].
26700687 2016 Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
26659129 2016 A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
26494408 2015 Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.
26427606 2015 SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.
26252573 2015 Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
26036855 2016 SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
25839108 2015 Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
25755818 2015 Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.
25735906 2015 New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene.
25724373 2015 Phenotypic variability in childhood of skeletal muscle sodium channelopathies.
25707578 2015 Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.
25660391 2015 SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
25450184 2015 Sialic acids attached to N- and O-glycans within the Nav1.4 D1S5-S6 linker contribute to channel gating.
25348630 2014 Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
25311598 2014 Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.
24943082 2014 [Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation].
24682880 2014 Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.
24607901 2014 Mechanism of tetrodotoxin block and resistance in sodium channels.
24549961 2014 NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.
24324661 2013 Mechanisms of a human skeletal myotonia produced by mutation in the C-terminus of NaV1.4: is Ca2+ regulation defective?
23771340 2013 Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
23420899 2013 Teaching video neuroimages: cold-induced eyelid myotonia.
23417379 2013 Double trouble in a patient with myotonia.
23381896 2013 Nav 1.4 slow-inactivation: is it a player in the warm-up phenomenon of myotonic disorders?
22914841 2012 Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.
22653516 2012 Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.
22617007 2012 A sodium channel myotonia due to a novel SCN4A mutation accompanied by acquired autoimmune myasthenia gravis.
22250216 2012 Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.
21841462 2012 Genotype and phenotype analysis of patients with sporadic periodic paralysis.
21665479 2011 Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family.
21664816 2011 Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation.
21606664 2011 Defective polysialylation and sialylation induce opposite effects on gating of the skeletal Na+ channel NaV1.4 in Chinese hamster ovary cells.
21521764 2011 Mechanisms underlying a life-threatening skeletal muscle Na+ channel disorder.
21317558 Ranolazine block of human Na v 1.4 sodium channels and paramyotonia congenita mutants.
21099342 Open- and closed-state fast inactivation in sodium channels: differential effects of a site-3 anemone toxin.
21043388 Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family.
20713951 2010 Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder.
20522878 2010 Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene.
20076800 2009 Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.
20038812 2010 Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.
19882638 2010 Homozygosity for dominant mutations increases severity of muscle channelopathies.
19881885 2009 Studies of alpha-helicity and intersegmental interactions in voltage-gated Na+ channels: S2D4.
19840739 2009 Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).
19773279 2009 Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
19347921 2009 New mutation of the Na channel in the severe form of potassium-aggravated myotonia.
19290024 2009 Permanent myopathy caused by mutation of SCN4A Metl592Val: Observation on myogenesis in vitro and on effect of basic fibroblast growth factor on the muscle.
19211598 2009 Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.
19118277 2009 Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
19077043 2009 Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.
19015483 2008 A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.
18726720 2008 [Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene].
18690054 Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.
18337730 2008 In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
18337100 2009 Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.
18281721 2008 Periodic paralyses: when channels go wrong.
18270170 2008 Calmodulin regulation of Nav1.4 current: role of binding to the carboxyl terminus.
18203179 2008 Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.
18166706 2008 What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
18162704 2007 The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
18079277 2008 State- and use-dependent block of muscle Nav1.4 and neuronal Nav1.7 voltage-gated Na+ channel isoforms by ranolazine.
18046642 2008 Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.
17998485 2007 A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.
17898326 2008 Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.
17823953 2008 Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita.
17804458 2008 Hyperkalaemia in a tetraplegic adolescent due to de novo sodium channel mutation.
17334961 2007 Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.
17212350 2007 A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.
17151947 2007 Central charged residues in DIIIS4 regulate deactivation gating in skeletal muscle sodium channels.
16890191 2006 Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.
16870577 2006 [Mutation of Thr704Met in SCN 4A causes normoKPP in a Chinese family].
16832098 2006 Autosomal dominant monosymptomatic myotonia permanens.
16786525 2006 Cold extends electromyography distinction between ion channel mutations causing myotonia.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16506889 2006 Efficient characterization of use-dependent ion channel blockers by real-time monitoring of channel state.
16392038 2005 K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels.
16382098 2005 International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.
15790667 2005 A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.
15596759 2004 New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
15482957 2004 Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.
15459238 2004 Cooperative effect of S4-S5 loops in domains D3 and D4 on fast inactivation of the Na+ channel.
15318338 2004 Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.
15072700 2004 Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis.
14527681 2003 Negatively charged residues adjacent to IFM motif in the DIII-DIV linker of hNa(V)1.4 differentially affect slow inactivation.
12766226 2003 Myasthenic syndrome caused by mutation of the SCN4A sodium channel.
12210802 2002 Normokalemic periodic paralysis revisited: does it exist?
11591859 2001 Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.
11558801 2001 Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.
10944223 2000 Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.
10851391 2000 Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
10727489 2000 Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.
10599760 1999 A novel sodium channel mutation in a family with hypokalemic periodic paralysis.
10369308 1999 A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
10366610 1999 Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.
10218481 1999 Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.
9521881 1998 Physical linkage of the human growth hormone gene cluster and the CD79b (Ig beta/B29) gene.
9392583 1997 A novel muscle sodium channel mutation causes painful congenital myotonia.
9164815 1997 Ion channels--basic science and clinical disease.
8580427 1995 Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).
8575757 1995 Physical linkage of the human growth hormone gene cluster and the skeletal muscle sodium channel alpha-subunit gene (SCN4A) on chromosome 17.
8388676 1993 Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.
8385647 1993 Genomic organization of the human skeletal muscle sodium channel gene.
8308722 1993 Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.
8242056 1993 A novel SCN4A mutation causing myotonia aggravated by cold and potassium.
8058156 1994 Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.
8044656 1994 Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.
7695243 1995 Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation?
2173143 1990 Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.
1851726 1991 Assignment of a human skeletal muscle sodium channel alpha-subunit gene (SCN4A) to 17q23.1-25.3.
1659948 1991 Identification of a mutation in the gene causing hyperkalemic periodic paralysis.
1659668 1991 A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.
1654742 1991 Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus.
1339144 1992 The genomic structure of the human skeletal muscle sodium channel gene.
1338909 1992 Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.
1316765 1992 Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.
1315496 1992 Primary structure of the adult human skeletal muscle voltage-dependent sodium channel.
1310898 1992 Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.
1310531 1992 Linkage of atypical myotonia congenita to a sodium channel locus.
1310396 1992 Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q.