Property Summary

NCBI Gene PubMed Count 121
PubMed Score 311.93
PubTator Score 313.92

Knowledge Summary

Patent (40,955)

TINX Plot

  Disease (8)

Disease Target Count
Epilepsy 346
Administration of Corneal Anesthesia 6
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 Epilepsy Treatment Adjunct 16
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
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 Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Hereditary sensory neuropathy 6 0.0 5.0

Expression

  Differential Expression (9)

Disease log2 FC p
malignant mesothelioma -5.700 1.7e-09
osteosarcoma -1.990 5.5e-04
cystic fibrosis 1.690 5.9e-04
intraductal papillary-mucinous adenoma (... -1.400 8.9e-04
colon cancer -2.900 2.0e-07
lung cancer -1.900 2.6e-04
pilocytic astrocytoma 2.300 5.4e-07
posterior fossa group B ependymoma 1.100 1.8e-02
pituitary cancer 2.000 9.1e-04

Gene RIF (112)

PMID Text
26920677 Patients with the SCN9A mutation with inherited erythromelalgia were characterized for the pain phenotype among individuals.
26752484 Postoperative pain was affected by SCN9A genetic variability in gynecological surgical patients.
26634308 Nav1.7 deletion has profound effects on gene expression, leading to an upregulation of enkephalin precursor Penk mRNA and met-enkephalin protein in sensory neurons.
26486037 We report the case of a 6-year-old girl with a SCN9A mutation who presented with both gain of function and loss of function phenotypes, including congenital corneal anesthesia.
26168879 These findings provided evidence that the variability of basal pain sensitivity was associated with SCN9A polymorphisms in the general population.
25995458 Novel SCN9A mutations altering Nav1.7 channel activation were found families with inherited erythromelalgia, paroxysmal extreme pain disorder and congenital insensitivity to pain.
25957174 the activity of mutant Nav1.7 channels in smooth muscle cells of skin vasculature and innervating sensory and sympathetic fibers contribute to the skin reddening
25585270 Association of SCN9A variants with neuropathic pain and pain severity suggests a role of SCN9A in the disease etiology of neuropathic pain
25575597 Nav1.7 mutations are associated with pain syndromes including erythromelalgia.
25285947 The novel p.L1612P Nav1.7 mutation expands the paroxysmal extreme pain disorder spectrum with a unique combination of clinical symptoms and electrophysiological properties
25240195 PKC can increase sodium resurgent currents through phosphorylation of a conserved Serine residue located in the domain III-IV linker of hNav1.7
25209274 Sodium channel Nav1.7, encoded by SCN9A, is expressed in DRG neurons and regulates their excitability.
25008557 NaV1.7 is expressed in both dorsal root ganglion neurons and pancreatic beta cells.Vulnerability of dorsal root ganglia neurons due to NaV1.7 mutations increases risk of neuropathy.
24866741 Our study demonstrates an example of predicting the treatment effect of mexiletine in patients suffering from a specific gain-of-function mutation in NaV1.7
24820863 The co-segregation of the I739V variant in the affected members of the family provides evidence, for the first time, that paroxysmal itch can be related to a mutation in sodium channel gene.
24401712 This study show a linear correlation between the level of Nav1.7 conductance and current threshold in DRG neurons.
24311784 persistent and resurgent currents are likely to determine whether a mutation in Nav1.7 leads to IEM or PEPD.
24202110 Recent studies have shown that mutations in the SCN9A gene are the cause of a subgroup of idiopathic small fiber neuropathies and that polymorphisms of SCN9A are associated with an increase in susceptibility to pain.
24082113 Data indicate that micro-SLPTX-Ssm6a, a unique 46-residue peptide from centipede venom, potently inhibits NaV1.7.
23986482 EGF/EGFR-mediated upregulation of Nav1.7 is necessary for invasive behaviour in these cells.
23895530 Role of the SCN9A mutations in genetic epilepsy with febrile seizures plus and Dravet syndrome
23874707 A working link between nociception and olfaction via Nav1.7 in the gain-of-function direction.
23850641 This study demonstrated that a variant of NaV1.7 associated with painful neuropathy depolarizes resting membrane potential and produces an enhanced inward current during interspike intervals, thereby contributing to DRG neuron hyperexcitability
23836888 a novel regulatory mechanism that utilizes CRMP2 SUMOylation to choreograph NaV1.7 trafficking.
23596073 We identified a novel homozygous mutation in SCN9A from 2 Japanese families with autosomal recessive hereditary sensory and autonomic neuropathy type IId.
23536180 Structural and functional demonstration of the importance of radial tuning of the sodium channel S6 helix for the channel activation.
23450472 More patients have suffered dyskinesis pain. A 3448 (C/T) mutation of SCN9A gene may be related to pathogenesis of pain in Parkinsonism.
23383113 A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers.
23364568 Patients carrying the SCN9A 3312Tallele presented with lower postoperative pain sensitivity in the presence of a similar surgical pain stimulus
23292638 2 gain-of-function mutations in the 4th domain of Nav1.7, A1746G & W1538R, caused hyperpolarization and affected age of erythromelalgia onset.
23280954 In small-fiber neuropathy, [isoleucine]228[methionine] variant Nav1.7 channel contributes to impaired regeneration and degeneration of sensory axons.
23232607 This review reveled the evidence that Na(V)1.7 is a major contributor to pain signalling in humans.
23149731 Structural modelling reveals that Na(v)1.7-S241T is ~2.4 A apart from V400M in the folded channel, and thermodynamic analysis demonstrates energetic coupling of V400M and S241T during activation.
23129781 We also found a splicing junction variant of SCN91 in all 19 patients WITH enital insensitivity to pain
23102778 These data strongly suggest that pain perception in at least a subset of patients with interstitial cystitis/bladder pain syndrome is influenced by the rs6746030 polymorphism in the SCN9A voltage-gated sodium channel.
23006801 No association between a non-synonymous polymorphism in SCN9A and chronic widespread pain was observed in multiple population-based cohorts.
22911851 Splicing can change the way that Na(V) channels interact with beta subunits.
22875917 The results of this study suggested that Sodium channel Na(v)1.7 is essential for lowering heat pain threshold after burn injury.
22539570 The I739V Nav1.7 variant in a patient with biopsy-confirmed idiopathic small fiber neuropathy impairs slow-inactivation within dorsal root ganglion neurons and increases their excitability.
22348792 In this group of Mexican women, a disabling form of fibromyalgia is associated with a SCN9A sodium channel gene variant, raising the possibility that patients with severe fibromyalgia may have a dorsal root ganglia sodium channelopathy.
22286749 Description of a novel syndrome of distal pain, dysautonomia, small hands and small feet in a kindred with a novel missense SCN9A mutation that causes multiple gain-of-function changes in NaV1.7, including markedly enhanced persistent current.
22136189 results demonstrate intra- and interfamily phenotypic diversity in pain syndromes produced by a gain-of-function variant of NaV1.7.
22033523 We present a severe case of progressive primary erythromelalgia caused by a new de novo heterozygous missense mutation (c.2623C>G) of the SCN9A gene which substitutes glutamine 875 by glutamic acid (p.Q875E). To our knowledge, this mutation has not been previously reported in the literature. [review]
21984269 Loss-of-function mutations in Na(v)1.7 are extremely rare, and invariably cause congenital inability to perceive pain (Review)
21939494 Data suggest that mutations in SCN9A may be cause partial deletion of pain perception, and the novel polymorphism V1104L may have a predictive role in the pain sensation of healthy individuals.
21715690 Fine-tuning of immature dendritic cell (DC)functions by voltage-gated sodium channel Nav1.7 emerges as a new regulatory mechanism modulating migration and cytokine responses of DC subsets.
21705421 This study suggested that NS-Del channels can increase neuronal excitability at potentials where slow inactivation has not overwhelmed the effects of enhanced activation and the persistent currents that facilitate the generation of action potentials.
21698661 Gain of function mutations in sodium channel Nanu1.7 which render dorsal root ganglion neurons hyperexcitable and are present in a substantial proportion of patients meeting strict criteria for idiopathic small fiber neuropathy.
21441906 Na(v)1.7 is not only necessary for pain sensation but is also an essential requirement for odour perception in both mice and humans
21232038 Depolarizing pulses that increased slow inactivation of Na(v)1.7 voltage-gated sodium channels also reduced lidocaine inhibition.
21115638 The paroxysmal extreme pain disorder associated Nav1.7 missense mutations M1627K, T1464I and V1299F increase Navbeta4 peptide-mediated resurgent sodium currents, in contrast to the erythromelalgia associated I848T and L858H Nav1.7 missense mutations.
21094958 A heterozygous change of n.4648 T-C in exon 27 caused W1550R, affecting a highly conserved amino acid, predicting damage in the transmembrane S2 region, repeat IV.SCN9A mutations cause pain syndromes other than IEM & PEPD.
21031562 R1150W amino acid change in the Na(V)1.7 alpha-chain is involved in genetic susceptibility to pain, but it does not appear to have a major role in osteoarthritic-specific pain.
20959280 We present a PEM case with R1150W polymorphism in SCN9A and a five-year remission was achieved by chemical lumbar sympathectomy (CLS).
20692858 Congenital insensitivity to pain was associated with two novel SCN9A mutations which most likely resulted in a Nav1.7 channelopathy.
20635406 This study has identified critical amino acids needed for the normal subcellular localization and function of Na(v)1.7.
20628234 This mutation expands the body of evidence supporting the critical role of the Na1.7 channel in the perception of pain.
20529324 Na v 1.7 sodium channel may play a significant role in inflammatory dental pain.
20478850 This study shows that a change in relative expression of splice isoforms can contribute to time-dependent manifestation of the functional phenotype of a sodium channelopathy.
20429905 Results provide evidence for differential roles of the DIII/S4-S5 linker N- and C-termini in channel inactivation and activation, and demonstrate the cellular basis for pain in patients carrying these mutations.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20212137 Individuals experience differing amounts of pain, per nociceptive stimulus, on the basis of their SCN9A rs6746030 genotype.
20212137 Observational study of gene-disease association. (HuGE Navigator)
20146699 several different disease manifestations arising from changes within the Na(v)1.7 channel (Review)
20074229 Despite the fact that the SCN9A gene is an excellent candidate, we did not find evidence that it plays a major role in familial complex regional pain syndrome
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
20033988 The results suggested that polymorphisms( R1150W) in the Na(V)1.7 channel may influence nociceptor excitability.
19800314 inherited form of erythromelalgia mutation L823R, which introduces an additional positive charge into the S4 voltage sensor of domain II, was characterized.
19763161 This study provides evidence for a role of SCN9A in human epilepsies, both as a cause of febrile seizure and as a partner with SCN1A mutations.
19763161 Observational study of gene-disease association. (HuGE Navigator)
19699781 In trigeminal neuralgia (TN) there is a reduction in the expression of Nav1.7 and an increase in the expression of Nav1.3, Nav1.8 expression not significantly different; TN can be, at least in part, a channelopathy.
19633428 the additive effects observed on ramp currents from exon 5 splicing and the PEPD mutation (I1461T) are likely to impact the disease phenotype
19557861 study reports a novel Nav1.7 mutation (V400M) in a three-generation Canadian family with inherited erythromelalgia in which pain is relieved by carbamazepine
19304393 Here we describe a woman with insensitivity to pain with two novel mutations in the SCN9A gene, coding for the Nav1.7 channel.
18978189 Na(V)1.7 is expressed in aorta after balloon injury, suggesting a potential role for Na(V)1.7 in the progression of intimal hyperplasia
18945915 Erythromelalgia and paroxysmal extreme pain disorder mutants(Nav1.7 A1632E)are part of a physiological continuum that can produce a continuum of clinical phenotypes.
18803825 Met1627Lys mutant SCN9A channels render dorsal root ganglion neurons hyperexcitable and provide a link between altered channel biophysics and pain in paroxysmal extreme pain disorder.
18676988 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18599537 This study demonstrated that mutations within D3/S4-S5 affect inactivation of Nav1.7 in a residue-specific manner and disruption of the fast-inactivated state by these mutations can be more moderate than previously indicated.
18518989 two missense mutations in Nav1.7 in a family with erythermalgia; one of the two variants (L858F) is causal for erythermalgia; the second variant (P610T) may modify the phenotype
18439623 variations of SCN9A can lead to complete inability to sense pain
18439623 Observational study of gene-disease association. (HuGE Navigator)
18426592 the increased axonal expression and augmentation of Nav1.7 at intact and remodeling/demyelinating nodes within the painful human dental pulp
18347287 We detected a low SCN9A mutation rate in patients with primary erythermalgia suggesting that pain syndromes in the skin may have a polygenic basis
18337362 alternative splicing of human Na(v)1.7 can specifically modulate the biophysical properties and cAMP-mediated regulation of this channel
18171466 The isoleucine-136-valine substitution alters channel gating and kinetic properties, contributing to erythromelalgia.
18079277 State- and use-dependent block of neuronal Nav1.7 voltage-gated Na+ channel isoforms by ranolazine is reported.
18070140 review: Congenital Indifference to Pain patients assessed are homozygous or compound heterozygous for nonsense mutations at various locations throughout SCN9A, resulting in an early stop codon
18070139 review: a series of SCN9A mutations resulting in gain-of-function phenotypes presenting with the phenotype of enhanced pain sensitivity.
18060017 highlights of recent developments and discussion of the critical role of Na(v)1.7 in pain sensation in humans [review]
18036246 VGSC activity has a significant intermediary role in potentiating effect of EGF in human prostate cancer
17985268 This study describe a boy with erythermalgia whose painful attacks began in infancy. We found a novel mutation of SCN9A.
17950472 The contribution of Na(v)1.7 to acquired and inherited pain states and the absence of motor, cognitive and cardiac deficits in patients lacking this channel make it an attractive target for the treatment of neuropathic pain.
17928139 In rectal hypersensitivity, Na(v)1.7 immunoreactive nerve fibres were significantly increased in mucosal, sub-mucosal, and muscle layers
17597096 A stop codon mutation in SCN9A causes lack of pain sensation.
17470132 identified 10 mutations in the SCN9A gene encoding the sodium channel protein Nav1.7 in congenital indifference to pain
17430993 Mutations in SCN9A may mediate variabiilty in lidocaine sensitivity in erythromelalgia patients.
17410110 A patient represents a typical case of juvenile onset primary familial erythromelalgia, a rare disorder that has been shown in some patients to be caused by a mutation to the SCN9A gene.
17404832 results suggest that the enhancement of TTX-sensitive sodium current density in differentiated NG108-15 cells is mainly due to the increase in the expression of the TTX-sensitive voltage-gated Na+ channel, NaV1.7
17294067 A Taiwanese family with the characteristic features of erythromelalgia is described. Genetic linkage studies established that the disease locus maps to human chromosome 2 and a novel mutation SCN9A(I136V)
17167479 data suggest that SCN9A is an essential and non-redundant requirement for nociception in humans
17167479 An SCN9A channelopathy causes congenital inability to experience pain
17135418 Ala863Pro mutant Nav1.7 channels produce hyperexcitability in dorsal root ganglia neurons, which contributes to the pathophysiology of erythromelalgia/erythermalgia.
17008310 the linker between S4 and S5 in domain I of Nav1.7 modulates gating of this channel, and a larger side chain at position 241 interferes with its gating mechanisms
16988069 These results provide a physiologic basis for the linkage to erythermalgia of an Na(v)1.7 mutation that substitutes one uncharged residue for another within an S4 segment of the channel.
16392115 A single amino acid substitution (L858F) in the DIIS4-S5 linker of Na(v)1.7 was present in two children whose parents were asymptomatic. The asymptomatic father was genetically mosaic for the mutation.
16216943 primary erythermalgia may be caused by hyperexcitability of nav1.7.
16088330 Nav1.7 is the VGSCalpha most strikingly upregulated (approximately 20-fold) in prostate neoplasms
15955112 detected missense sequence variants in SCN9A to be present in primary erythermalgia patients
15929046 familial erythromelalgia is a channelopathy caused by mutations in the gene encoding the Na(v)1.7 sodium channel which lead to altered channel function
15385606 We show that mutations in Na(v)1.7 associated with erythermalgia produce a hyperpolarizing shift in activation and slow deactivation, and cause an increased amplitude of the current produced by Na(v)1.7 in response to slow, small polarizations
14985375 mutations in SCN9A cause primary erythermalgia

AA Sequence

MAMLPPPGPQSFVHFTKQSLALIEQRIAERKSKEPKEEKKDDDEEAPKPSSDLEAGKQLPFIYGDIPPGM      1 - 70
VSEPLEDLDPYYADKKTFIVLNKGKTIFRFNATPALYMLSPFSPLRRISIKILVHSLFSMLIMCTILTNC     71 - 140
IFMTMNNPPDWTKNVEYTFTGIYTFESLVKILARGFCVGEFTFLRDPWNWLDFVVIVFAYLTEFVNLGNV    141 - 210
SALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLKHKCFRNSL    211 - 280
ENNETLESIMNTLESEEDFRKYFYYLEGSKDALLCGFSTDSGQCPEGYTCVKIGRNPDYGYTSFDTFSWA    281 - 350
FLALFRLMTQDYWENLYQQTLRAAGKTYMIFFVVVIFLGSFYLINLILAVVAMAYEEQNQANIEEAKQKE    351 - 420
LEFQQMLDRLKKEQEEAEAIAAAAAEYTSIRRSRIMGLSESSSETSKLSSKSAKERRNRRKKKNQKKLSS    421 - 490
GEEKGDAEKLSKSESEDSIRRKSFHLGVEGHRRAHEKRLSTPNQSPLSIRGSLFSARRSSRTSLFSFKGR    491 - 560
GRDIGSETEFADDEHSIFGDNESRRGSLFVPHRPQERRSSNISQASRSPPMLPVNGKMHSAVDCNGVVSL    561 - 630
VDGRSALMLPNGQLLPEVIIDKATSDDSGTTNQIHKKRRCSSYLLSEDMLNDPNLRQRAMSRASILTNTV    631 - 700
EELEESRQKCPPWWYRFAHKFLIWNCSPYWIKFKKCIYFIVMDPFVDLAITICIVLNTLFMAMEHHPMTE    701 - 770
EFKNVLAIGNLVFTGIFAAEMVLKLIAMDPYEYFQVGWNIFDSLIVTLSLVELFLADVEGLSVLRSFRLL    771 - 840
RVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKINDDCTLPRWHM    841 - 910
NDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVYMMVMVIGNLVVLNLFLALLLSSFSSDNLTAIE    911 - 980
EDPDANNLQIAVTRIKKGINYVKQTLREFILKAFSKKPKISREIRQAEDLNTKKENYISNHTLAEMSKGH    981 - 1050
NFLKEKDKISGFGSSVDKHLMEDSDGQSFIHNPSLTVTVPIAPGESDLENMNAEELSSDSDSEYSKVRLN   1051 - 1120
RSSSSECSTVDNPLPGEGEEAEAEPMNSDEPEACFTDGCVWRFSCCQVNIESGKGKIWWNIRKTCYKIVE   1121 - 1190
HSWFESFIVLMILLSSGALAFEDIYIERKKTIKIILEYADKIFTYIFILEMLLKWIAYGYKTYFTNAWCW   1191 - 1260
LDFLIVDVSLVTLVANTLGYSDLGPIKSLRTLRALRPLRALSRFEGMRVVVNALIGAIPSIMNVLLVCLI   1261 - 1330
FWLIFSIMGVNLFAGKFYECINTTDGSRFPASQVPNRSECFALMNVSQNVRWKNLKVNFDNVGLGYLSLL   1331 - 1400
QVATFKGWTIIMYAAVDSVNVDKQPKYEYSLYMYIYFVVFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGQ   1401 - 1470
DIFMTEEQKKYYNAMKKLGSKKPQKPIPRPGNKIQGCIFDLVTNQAFDISIMVLICLNMVTMMVEKEGQS   1471 - 1540
QHMTEVLYWINVVFIILFTGECVLKLISLRHYYFTVGWNIFDFVVVIISIVGMFLADLIETYFVSPTLFR   1541 - 1610
VIRLARIGRILRLVKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKKEDGINDMFN   1611 - 1680
FETFGNSMICLFQITTSAGWDGLLAPILNSKPPDCDPKKVHPGSSVEGDCGNPSVGIFYFVSYIIISFLV   1681 - 1750
VVNMYIAVILENFSVATEESTEPLSEDDFEMFYEVWEKFDPDATQFIEFSKLSDFAAALDPPLLIAKPNK   1751 - 1820
VQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDSLRSQMEERFMSANPSKVSYEPITTTLKRKQED   1821 - 1890
VSATVIQRAYRRYRLRQNVKNISSIYIKDGDRDDDLLNKKDMAFDNVNENSSPEKTDATSSTTSPPSYDS   1891 - 1960
VTKPDKEKYEQDRTEKEDKGKDSKESKK                                             1961 - 1988
//

Text Mined References (123)

PMID Year Title
26920677 2016 Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.
26752484 2016 Genotypic Analysis of SCN9A for Prediction of Postoperative Pain in Female Patients Undergoing Gynecological Laparoscopic Surgery.
26680203 2015 Structural basis of Nav1.7 inhibition by an isoform-selective small-molecule antagonist.
26634308 2015 Endogenous opioids contribute to insensitivity to pain in humans and mice lacking sodium channel Nav1.7.
26486037 2015 Bilateral congenital corneal anesthesia in a patient with SCN9A mutation, confirmed primary erythromelalgia, and paroxysmal extreme pain disorder.
26168879 2015 The Effect of SCN9A Variation on Basal Pain Sensitivity in the General Population: An Experimental Study in Young Women.
25995458 2015 Novel SCN9A mutations underlying extreme pain phenotypes: unexpected electrophysiological and clinical phenotype correlations.
25957174 2015 Sodium channel Nav1.7 in vascular myocytes, endothelium, and innervating axons in human skin.
25585270 2015 SCN9A Variants May be Implicated in Neuropathic Pain Associated With Diabetic Peripheral Neuropathy and Pain Severity.
25575597 2015 Erythromelalgia mutation Q875E Stabilizes the activated state of sodium channel Nav1.7.
25285947 2015 p.L1612P, a novel voltage-gated sodium channel Nav1.7 mutation inducing a cold sensitive paroxysmal extreme pain disorder.
25240195 2014 Protein kinase C enhances human sodium channel hNav1.7 resurgent currents via a serine residue in the domain III-IV linker.
25209274 2014 Depolarized inactivation overcomes impaired activation to produce DRG neuron hyperexcitability in a Nav1.7 mutation in a patient with distal limb pain.
25008557 2014 Channelopathies, painful neuropathy, and diabetes: which way does the causal arrow point?
24866741 2014 Mexiletine as a treatment for primary erythromelalgia: normalization of biophysical properties of mutant L858F NaV 1.7 sodium channels.
24820863 2014 Paroxysmal itch caused by gain-of-function Nav1.7 mutation.
24401712 2014 Dynamic-clamp analysis of wild-type human Nav1.7 and erythromelalgia mutant channel L858H.
24311784 2014 Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation.
24202110 2013 [Neuropathic pain associated with Nav1.7 mutations: clinical picture and treatment].
24082113 2013 Discovery of a selective NaV1.7 inhibitor from centipede venom with analgesic efficacy exceeding morphine in rodent pain models.
23986482 2013 Functional expression of the voltage-gated Na?-channel Nav1.7 is necessary for EGF-mediated invasion in human non-small cell lung cancer cells.
23895530 2013 Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
23874707 2013 Linkage between increased nociception and olfaction via a SCN9A haplotype.
23850641 2013 Differential effect of D623N variant and wild-type Na(v)1.7 sodium channels on resting potential and interspike membrane potential of dorsal root ganglion neurons.
23836888 2013 CRMP2 protein SUMOylation modulates NaV1.7 channel trafficking.
23596073 2013 Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.
23536180 2013 Molecular architecture of a sodium channel S6 helix: radial tuning of the voltage-gated sodium channel 1.7 activation gate.
23450472 2013 [Association between mutations of SCN9A gene and pain related to Parkinsonism].
23383113 2013 A novel SCN9A mutation responsible for primary erythromelalgia and is resistant to the treatment of sodium channel blockers.
23364568 2013 A single-nucleotide polymorphism in SCN9A may decrease postoperative pain sensitivity in the general population.
23292638 2013 Novel mutations mapping to the fourth sodium channel domain of Nav1.7 result in variable clinical manifestations of primary erythromelalgia.
23280954 2013 Neuropathy-associated Nav1.7 variant I228M impairs integrity of dorsal root ganglion neuron axons.
23259602 2012 Genome-wide association scan of dental caries in the permanent dentition.
23232607 2013 The Na(V)1.7 sodium channel: from molecule to man.
23149731 2012 Structural modelling and mutant cycle analysis predict pharmacoresponsiveness of a Na(V)1.7 mutant channel.
23129781 2013 Infrequent SCN9A mutations in congenital insensitivity to pain and erythromelalgia.
23102778 2013 Polymorphism in the SCN9A voltage-gated sodium channel gene associated with interstitial cystitis/bladder pain syndrome.
23006801 2012 The non-synonymous SNP, R1150W, in SCN9A is not associated with chronic widespread pain susceptibility.
22911851 2012 Splice variants of Na(V)1.7 sodium channels have distinct ? subunit-dependent biophysical properties.
22875917 2012 Sodium channel Na(v)1.7 is essential for lowering heat pain threshold after burn injury.
22539570 2012 Nav1.7-related small fiber neuropathy: impaired slow-inactivation and DRG neuron hyperexcitability.
22348792 2012 A SCN9A gene-encoded dorsal root ganglia sodium channel polymorphism associated with severe fibromyalgia.
22286749 2012 Small nerve fibres, small hands and small feet: a new syndrome of pain, dysautonomia and acromesomelia in a kindred with a novel NaV1.7 mutation.
22136189 2011 Intra- and interfamily phenotypic diversity in pain syndromes associated with a gain-of-function variant of NaV1.7.
22033523 2012 Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation.
21984269 2012 Pain disorders and erythromelalgia caused by voltage-gated sodium channel mutations.
21939494 2011 Two novel SCN9A gene heterozygous mutations may cause partial deletion of pain perception.
21715690 2011 Voltage-gated sodium channel Nav1.7 maintains the membrane potential and regulates the activation and chemokine-induced migration of a monocyte-derived dendritic cell subset.
21705421 2011 Deletion mutation of sodium channel Na(V)1.7 in inherited erythromelalgia: enhanced slow inactivation modulates dorsal root ganglion neuron hyperexcitability.
21698661 2012 Gain of function Na?1.7 mutations in idiopathic small fiber neuropathy.
21441906 2011 Loss-of-function mutations in sodium channel Nav1.7 cause anosmia.
21232038 2011 Lidocaine reduces the transition to slow inactivation in Na(v)1.7 voltage-gated sodium channels.
21115638 2011 Nav1.7 mutations associated with paroxysmal extreme pain disorder, but not erythromelalgia, enhance Navbeta4 peptide-mediated resurgent sodium currents.
21094958 2011 Chronic non-paroxysmal neuropathic pain - Novel phenotype of mutation in the sodium channel SCN9A gene.
21031562 2011 Role of the Nav1.7 R1150W amino acid change in susceptibility to symptomatic knee osteoarthritis and multiple regional pain.
20959280 Long-term remission of primary erythermalgia with R1150W polymorphism in SCN9A after chemical lumbar sympathectomy.
20692858 2011 Two novel mutations of SCN9A (Nav1.7) are associated with partial congenital insensitivity to pain.
20635406 2010 Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutations.
20628234 2010 A nonsense mutation in the SCN9A gene in congenital insensitivity to pain.
20529324 2010 Sodium channel Na v 1.7 immunoreactivity in painful human dental pulp and burning mouth syndrome.
20478850 2010 Alternative splicing may contribute to time-dependent manifestation of inherited erythromelalgia.
20429905 2010 Mutations at opposite ends of the DIII/S4-S5 linker of sodium channel Na V 1.7 produce distinct pain disorders.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20212137 2010 Pain perception is altered by a nucleotide polymorphism in SCN9A.
20146699 2010 Familial pain syndromes from mutations of the NaV1.7 sodium channel.
20074229 2010 No mutations in the voltage-gated NaV1.7 sodium channel alpha1 subunit gene SCN9A in familial complex regional pain syndrome.
20038812 2010 Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.
20033988 2009 A sodium channel gene SCN9A polymorphism that increases nociceptor excitability.
19800314 2009 Erythromelalgia mutation L823R shifts activation and inactivation of threshold sodium channel Nav1.7 to hyperpolarized potentials.
19763161 2009 A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
19699781 2009 Abnormal expression of voltage-gated sodium channels Nav1.7, Nav1.3 and Nav1.8 in trigeminal neuralgia.
19633428 Alternative splicing of Na(V)1.7 exon 5 increases the impact of the painful PEPD mutant channel I1461T.
19557861 2009 A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.
19369487 2009 Early- and late-onset inherited erythromelalgia: genotype-phenotype correlation.
19304393 2009 Two novel SCN9A mutations causing insensitivity to pain.
18978189 2009 Function and role of voltage-gated sodium channel NaV1.7 expressed in aortic smooth muscle cells.
18945915 2008 NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.
18803825 2008 Paroxysmal extreme pain disorder M1627K mutation in human Nav1.7 renders DRG neurons hyperexcitable.
18676988 2008 A high-density association screen of 155 ion transport genes for involvement with common migraine.
18599537 2008 Paroxysmal extreme pain disorder mutations within the D3/S4-S5 linker of Nav1.7 cause moderate destabilization of fast inactivation.
18518989 2008 Compound heterozygosity in sodium channel Nav1.7 in a family with hereditary erythermalgia.
18439623 2008 Association analysis of SCN9A gene variants with borderline personality disorder.
18426592 2008 Nav1.7 expression is increased in painful human dental pulp.
18347287 2008 Primary erythermalgia as a sodium channelopathy: screening for SCN9A mutations: exclusion of a causal role of SCN10A and SCN11A.
18337362 2008 Biophysical properties of human Na v1.7 splice variants and their regulation by protein kinase A.
18171466 2008 Mutation I136V alters electrophysiological properties of the Na(v)1.7 channel in a family with onset of erythromelalgia in the second decade.
18079277 2008 State- and use-dependent block of muscle Nav1.4 and neuronal Nav1.7 voltage-gated Na+ channel isoforms by ranolazine.
18070140 2008 A life without pain? Hedonists take note.
18070139 2008 When adaptive processes go awry: gain-of-function in SCN9A.
18060017 2007 Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders.
18036246 2007 Epidermal growth factor potentiates in vitro metastatic behaviour of human prostate cancer PC-3M cells: involvement of voltage-gated sodium channel.
17985268 2007 A case of primary erythermalgia, wintry hypothermia and encephalopathy.
17950472 2007 From genes to pain: Na v 1.7 and human pain disorders.
17928139 2007 Voltage-gated ion channel Nav1.7 innervation in patients with idiopathic rectal hypersensitivity and paroxysmal extreme pain disorder (familial rectal pain).
17597096 2007 A stop codon mutation in SCN9A causes lack of pain sensation.
17470132 2007 Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations.
17430993 2007 A Nav1.7 channel mutation associated with hereditary erythromelalgia contributes to neuronal hyperexcitability and displays reduced lidocaine sensitivity.
17410110 2007 A case of inherited erythromelalgia.
17404832 2007 Enhancement of sodium current in NG108-15 cells during neural differentiation is mainly due to an increase in NaV1.7 expression.
17294067 2007 Characterization of a familial case with primary erythromelalgia from Taiwan.
17167479 2006 An SCN9A channelopathy causes congenital inability to experience pain.
17145499 2006 SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.
17135418 2006 Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons.
17008310 2006 Size matters: Erythromelalgia mutation S241T in Nav1.7 alters channel gating.
16988069 2006 Inherited erythermalgia: limb pain from an S4 charge-neutral Na channelopathy.
16702558 2006 A single sodium channel mutation produces hyper- or hypoexcitability in different types of neurons.
16392115 2006 Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.
16382098 2005 International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.
16216943 2005 Autosomal dominant erythermalgia associated with a novel mutation in the voltage-gated sodium channel alpha subunit Nav1.7.
16088330 2005 A potential novel marker for human prostate cancer: voltage-gated sodium channel expression in vivo.
15958509 2005 Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.
15955112 2005 SCN9A mutations define primary erythermalgia as a neuropathic disorder of voltage gated sodium channels.
15929046 2005 Erythromelalgia: a hereditary pain syndrome enters the molecular era.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15385606 2004 Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.
15302875 2004 Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia.
15178348 2004 Voltage-gated sodium channel expressed in cultured human smooth muscle cells: involvement of SCN9A.
14985375 2004 Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia.
11283792 2001 The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.
10198179 1999 Evolution and diversity of mammalian sodium channel genes.
9169448 1997 A novel tetrodotoxin-sensitive, voltage-gated sodium channel expressed in rat and human dorsal root ganglia.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7720699 1995 Structure and functional expression of a new member of the tetrodotoxin-sensitive voltage-activated sodium channel family from human neuroendocrine cells.