SCN1A

Summary

Gene Symbol: SCN1A
Description: sodium voltage-gated channel alpha subunit 1
Alias: EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI, sodium channel protein type 1 subunit alpha, sodium channel protein type I subunit alpha, sodium channel protein, brain I alpha subunit, sodium channel voltage gated type 1 alpha subunit, sodium channel, voltage-gated, type I, alpha polypeptide, sodium channel, voltage-gated, type I, alpha subunit, voltage-gated sodium channel subunit alpha Nav1.1
Species: human
Products:     SCN1A

Top Publications

  1. Harkin L, McMahon J, Iona X, Dibbens L, Pelekanos J, Zuberi S, et al. The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain. 2007;130:843-52 pubmed
    ..and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established...
  2. Weiss L, Escayg A, Kearney J, Trudeau M, MacDonald B, Mori M, et al. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry. 2003;8:186-94 pubmed
    ..Mutations in two of these genes, SCN1A and SCN2A, result in the seizure disorder GEFS+...
  3. Abou Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology. 2001;57:2265-72 pubmed
    ..has previously been linked to mutations in two genes encoding the voltage-gated sodium channel alpha-subunit (SCN1A) and beta1-subunit (SCN1B). We studied a large family with FS and partial as well as generalized seizure types...
  4. Martin M, Tang B, Ta N, Escayg A. Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences. Genomics. 2007;90:225-35 pubmed
    The human voltage-gated sodium channel gene cluster on chromosome 2q24 contains three paralogs, SCN1A, SCN2A, and SCN3A, which are expressed in the central nervous system...
  5. Escayg A, MacDonald B, Meisler M, Baulac S, Huberfeld G, An Gourfinkel I, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet. 2000;24:343-5 pubmed
  6. Herini E, Gunadi -, van Kempen M, Yusoff S, Sutaryo -, Sunartini -, et al. Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy. Pediatr Int. 2010;52:234-9 pubmed publisher
    Severe myoclonic epilepsy in infancy (SMEI) and borderline SMEI (SMEB) are caused by a mutation in SCN1A, which encodes a voltage-gated sodium channel alpha1-subunit protein...
  7. Fujiwara T, Sugawara T, Mazaki Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, et al. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain. 2003;126:531-46 pubmed
    ..Mutations of the neuronal voltage-gated sodium channel alpha subunit type 1 gene (SCN1A) were recently reported in SMEI patients...
  8. Catterall W, Kalume F, Oakley J. NaV1.1 channels and epilepsy. J Physiol. 2010;588:1849-59 pubmed publisher
    ..1 channel encoded by the SCN1A gene is the most frequent target of mutations. Complete loss-of-function mutations in NaV1...
  9. Ohmori I, Kahlig K, Rhodes T, Wang D, George A. Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy. Epilepsia. 2006;47:1636-42 pubmed
    Mutations in SCN1A, encoding the human Na(V)1.1 neuronal voltage-gated sodium channel, cause the syndrome of severe myoclonic epilepsy of infancy (SMEI)...

More Information

Publications66

  1. Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, et al. Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome. Hum Mutat. 2010;31:820-9 pubmed publisher
    Mutations involving the voltage-gated sodium channel alpha(I) gene SCN1A are major genetic causes of childhood epileptic disorders, as typified by Dravet syndrome...
  2. Depienne C, Trouillard O, Gourfinkel An I, Saint Martin C, Bouteiller D, Graber D, et al. Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome. J Med Genet. 2010;47:404-10 pubmed publisher
    BACKGROUND Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all types)...
  3. Depienne C, Trouillard O, Saint Martin C, Gourfinkel An I, Bouteiller D, Carpentier W, et al. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet. 2009;46:183-91 pubmed publisher
    Mutations in the voltage-gated sodium channel SCN1A gene are the main genetic cause of Dravet syndrome (previously called severe myoclonic epilepsy of infancy or SMEI)...
  4. Rhodes T, Vanoye C, Ohmori I, Ogiwara I, Yamakawa K, George A. Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures. J Physiol. 2005;569:433-45 pubmed
    Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1...
  5. Rusconi R, Combi R, Cestele S, Grioni D, Franceschetti S, Dalprà L, et al. A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?. Hum Mutat. 2009;30:E747-60 pubmed publisher
    ..1 (SCN1A) is the most frequent target...
  6. Lakhan R, Kumari R, Misra U, Kalita J, Pradhan S, Mittal B. Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population. Br J Clin Pharmacol. 2009;68:214-20 pubmed publisher
    ..susceptibility and their role in therapeutic efficacy, we screened coding single-nucleotide polymorphism of SCN1A p. Thr 1067 Ala or c.3184 A-->G (rs2298771) and SCN2A p.Arg19Lys or c...
  7. Kwan P, Poon W, Ng H, Kang D, Wong V, Ng P, et al. Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression. Pharmacogenet Genomics. 2008;18:989-98 pubmed publisher
    ..We performed genotyping of tagging and candidate single nucleotide polymorphisms (SNPs) of SCN1A, 2A, and 3A in 471 Chinese epilepsy patients (272 drug responsive and 199 drug resistant)...
  8. Lossin C, Rhodes T, Desai R, Vanoye C, Wang D, Carniciu S, et al. Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci. 2003;23:11289-95 pubmed
    Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha1 subunit (NaV1...
  9. Long Y, Zhao Q, Su T, Cai Y, Zeng Y, Shi Y, et al. Identification of the promoter region and the 5'-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5'-untranslated exons. J Neurosci Res. 2008;86:3375-81 pubmed publisher
    ..In the present study, we identified the transcription start site and three 5'-untranslated exons of SCN1A by using 5'-full RACE. The 2...
  10. Verbeek N, van Kempen M, Gunning W, Renier W, Westland B, Lindhout D, et al. Adults with a history of possible Dravet syndrome: an illustration of the importance of analysis of the SCN1A gene. Epilepsia. 2011;52:e23-5 pubmed publisher
    Most patients with Dravet syndrome have de novo mutations in the neuronal voltage-gated sodium channel type 1 (SCN1A) gene...
  11. Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun. 2002;295:17-23 pubmed
    ..between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel alpha1-subunit (SCN1A) gene, beta1-subunit (SCN1B) gene, and gamma-aminobutyric acid(A) receptor gamma2-subunit (GABRG2) gene in DNAs ..
  12. Heinzen E, Yoon W, Tate S, Sen A, Wood N, Sisodiya S, et al. Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. Am J Hum Genet. 2007;80:876-83 pubmed
    An intronic polymorphism in the SCN1A gene, which encodes a neuronal sodium-channel alpha subunit, has been previously associated with the dosing of two commonly used antiepileptic drugs that elicit their pharmacologic action primarily ..
  13. Hattori J, Ouchida M, Ono J, Miyake S, Maniwa S, Mimaki N, et al. A screening test for the prediction of Dravet syndrome before one year of age. Epilepsia. 2008;49:626-33 pubmed
    ..test to predict Dravet syndrome before the first birthday based on the clinical characteristics of infants and the SCN1A mutation analysis. Ninety-six patients who experienced febrile seizures before the age of one were enrolled...
  14. Rusconi R, Scalmani P, Cassulini R, Giunti G, Gambardella A, Franceschetti S, et al. Modulatory proteins can rescue a trafficking defective epileptogenic Nav1.1 Na+ channel mutant. J Neurosci. 2007;27:11037-46 pubmed
    ..We studied Na(v)1.1 (SCN1A) Na+ channel alpha subunit M1841T mutation, identified in a family characterized by a particularly large ..
  15. Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint Martin C, et al. Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat. 2006;27:389 pubmed
    De novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel Nav1.1, are the most frequent genetic cause of Severe Myoclonic Epilepsy of Infancy known so far...
  16. Zimprich F, Stogmann E, Bonelli S, Baumgartner C, Mueller J, Meitinger T, et al. A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy. Epilepsia. 2008;49:1108-9 pubmed publisher
  17. Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 2009;5:e1000381 pubmed publisher
    Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene...
  18. Schlachter K, Gruber Sedlmayr U, Stogmann E, Lausecker M, Hotzy C, Balzar J, et al. A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures. Neurology. 2009;72:974-8 pubmed publisher
    ..whether the risk of febrile seizures is influenced by a common functional polymorphism in the sodium channel gene SCN1A. This single nucleotide polymorphism (IVS5N+5 G>A, rs3812718) was shown to modify the proportion of two ..
  19. Yu M, Shi Y, Gao M, Deng W, Liu X, Chen L, et al. Milder phenotype with SCN1A truncation mutation other than SMEI. Seizure. 2010;19:443-5 pubmed publisher
    Till now truncation mutations of voltage-gated sodium channel alpha subunit type I (SCN1A) gene were mostly found in severe myoclonic epilepsy of infancy (SMEI) patients...
  20. Sugawara T, Tsurubuchi Y, Fujiwara T, Mazaki Miyazaki E, Nagata K, Montal M, et al. Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res. 2003;54:201-7 pubmed
    ..Nonsense, frameshift, and missense mutations of SCN1A gene encoding the voltage-gated Na(+) channel alpha-subunit type I (Na(v)1...
  21. Claes L, Ceulemans B, Audenaert D, Smets K, Lofgren A, Del Favero J, et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat. 2003;21:615-21 pubmed
    ..Recently, we described de novo mutations of the neuronal sodium channel alpha-subunit gene SCN1A in seven isolated SMEI patients...
  22. Chou I, Peng C, Tsai F, Huang C, Shi Y, Tsai C. The lack of association between febrile convulsions and polymorphisms in SCN1A. Epilepsy Res. 2003;54:53-7 pubmed
    ..Recent studies provided evidence that mutations in SCN1A represent the most frequent cause of generalized epilepsy with febrile seizures plus an autosomal-dominant ..
  23. Claes L, Del Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet. 2001;68:1327-32 pubmed
    ..Missense mutations in the gene that codes for a neuronal voltage-gated sodium-channel alpha-subunit (SCN1A) were identified in families with generalized epilepsy with febrile seizures plus (GEFS+)...
  24. Brunklaus A, Ellis R, Reavey E, Forbes G, Zuberi S. Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain. 2012;135:2329-36 pubmed publisher
    ..infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies have systematically examined the prognostic, clinical and demographic features of the ..
  25. Zuberi S, Brunklaus A, Birch R, Reavey E, Duncan J, Forbes G. Genotype-phenotype associations in SCN1A-related epilepsies. Neurology. 2011;76:594-600 pubmed publisher
    Most mutations in SCN1A-related epilepsies are novel and when an infant presents with febrile seizures (FS) it is uncertain if they will have simple FS, FS+, or develop a severe epilepsy such as Dravet syndrome...
  26. Guerrini R, Falchi M. Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants. Dev Med Child Neurol. 2011;53 Suppl 2:11-5 pubmed publisher
  27. Fountain Capal J, Holland K, Gilbert D, Hallinan B. When should clinicians order genetic testing for Dravet syndrome?. Pediatr Neurol. 2011;45:319-23 pubmed publisher
    The role of neuronal voltage-gated sodium channel, ?-1 subunit (SCN1A) gene mutations in Dravet syndrome is well-established...
  28. Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Iai M, et al. Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. Epilepsy Res. 2007;75:46-51 pubmed
    We investigated the roles of mutations in voltage-gated sodium channel alpha 1 subunit gene (SCN1A) in epilepsies and psychiatric disorders...
  29. Sugawara T, Mazaki Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology. 2002;58:1122-4 pubmed
    Mutations in the neuronal voltage-gated sodium channel alpha-subunit type I gene (SCN1A) were found responsible for severe myoclonic epilepsy in infancy (SMEI). The authors describe novel mutations of SCN1A in Japanese patients with SMEI...
  30. Madia F, Striano P, Gennaro E, Malacarne M, Paravidino R, Biancheri R, et al. Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy. Neurology. 2006;67:1230-5 pubmed
    To identify cryptic chromosomal deletions involving SCN1A in patients with severe myoclonic epilepsy of infancy (SMEI)...
  31. Lossin C, Wang D, Rhodes T, Vanoye C, George A. Molecular basis of an inherited epilepsy. Neuron. 2002;34:877-84 pubmed
    ..epilepsy syndrome, mutations in three genes coding for voltage-gated sodium channel alpha or beta1 subunits (SCN1A, SCN2A, SCN1B) and one GABA receptor subunit gene (GABRG2) have been identified...
  32. Copley R. Evolutionary convergence of alternative splicing in ion channels. Trends Genet. 2004;20:171-6 pubmed
    ..The result has important implications for the analysis of regulation of alternative splicing using comparative genomics and our understanding of molecular evolution. ..
  33. Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz Depiereux B, Biskup S, et al. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet. 2005;366:371-7 pubmed
    ..region revealed a heterozygous missense mutation (Gln1489Lys) in the neuronal voltage-gated sodium channel gene SCN1A, mutations of which have been associated with epilepsy...
  34. Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, et al. Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity. Neurology. 2004;63:329-34 pubmed
    Many missense mutations in the voltage-gated sodium channel subunit gene SCN1A were identified in patients with generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy (SMEI), although GEFS+ is ..
  35. Ogiwara I, Miyamoto H, Morita N, Atapour N, Mazaki E, Inoue I, et al. Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci. 2007;27:5903-14 pubmed
    Loss-of-function mutations in human SCN1A gene encoding Nav1.1 are associated with a severe epileptic disorder known as severe myoclonic epilepsy in infancy...
  36. Petrovski S, Scheffer I, Sisodiya S, O Brien T, Berkovic S. Lack of replication of association between scn1a SNP and febrile seizures. Neurology. 2009;73:1928-30 pubmed publisher
  37. Wallace R, Scheffer I, Barnett S, Richards M, Dibbens L, Desai R, et al. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet. 2001;68:859-65 pubmed
    ..A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel alpha1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the ..
  38. Escayg A, Heils A, MacDonald B, Haug K, Sander T, Meisler M. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy. Am J Hum Genet. 2001;68:866-73 pubmed
    We recently described mutations of the neuronal sodium-channel alpha-subunit gene, SCN1A, on chromosome 2q24 in two families with generalized epilepsy with febrile seizures plus (GEFS+) type 2...
  39. Carranza Rojo D, Hamiwka L, McMahon J, Dibbens L, Arsov T, Suls A, et al. De novo SCN1A mutations in migrating partial seizures of infancy. Neurology. 2011;77:380-3 pubmed publisher
    ..children with MPSI were screened for mutations in genes associated with infantile epileptic encephalopathies: SCN1A, CDKL5, STXBP1, PCDH19, and POLG. Microarray studies were performed to identify copy number variations...
  40. Gennaro E, Veggiotti P, Malacarne M, Madia F, Cecconi M, Cardinali S, et al. Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. Epileptic Disord. 2003;5:21-5 pubmed
    ..Recently, mutations in SCN1A and GABRG2 have been described in SMEI patients...
  41. Rhodes T, Lossin C, Vanoye C, Wang D, George A. Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A. 2004;101:11147-52 pubmed
    Mutations in SCN1A, the gene encoding the brain voltage-gated sodium channel alpha(1) subunit (Na(V)1...
  42. McIntosh A, McMahon J, Dibbens L, Iona X, Mulley J, Scheffer I, et al. Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. Lancet Neurol. 2010;9:592-8 pubmed publisher
    ..vaccine encephalopathy had Dravet syndrome that was associated with de-novo mutations of the sodium channel gene SCN1A. In this study, we aimed to establish whether the apparent association of Dravet syndrome with vaccination was ..
  43. Mashimo T, Ohmori I, Ouchida M, Ohno Y, Tsurumi T, Miki T, et al. A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats. J Neurosci. 2010;30:5744-53 pubmed publisher
    ..Several missense mutations of the Na(v)1.1 channel (SCN1A), which alter channel properties, have been reported in a familial syndrome of GEFS+ (generalized epilepsy with ..
  44. Spampanato J, Kearney J, de Haan G, McEwen D, Escayg A, Aradi I, et al. A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction. J Neurosci. 2004;24:10022-34 pubmed
    A mutation in the sodium channel SCN1A was identified in a small Italian family with dominantly inherited generalized epilepsy with febrile seizures plus (GEFS+)...
  45. Claes L, Deprez L, Suls A, Baets J, Smets K, Van Dyck T, et al. The SCN1A variant database: a novel research and diagnostic tool. Hum Mutat. 2009;30:E904-20 pubmed publisher
    The neuronal voltage-gated sodium channel Na(v)1.1 encoded by the SCN1A gene plays an important role in the generation and propagation of action potentials in the central nervous system...
  46. Mulley J, Scheffer I, Petrou S, Dibbens L, Berkovic S, Harkin L. SCN1A mutations and epilepsy. Hum Mutat. 2005;25:535-42 pubmed
    b>SCN1A is part of the SCN1A-SCN2A-SCN3A gene cluster on chromosome 2q24 that encodes for alpha pore forming subunits of sodium channels. The 26 exons of SCN1A are spread over 100 kb of genomic DNA...
  47. Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini R, et al. Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. Proc Natl Acad Sci U S A. 2005;102:18177-82 pubmed
    ..for familial FS, and the FEB3 autosomal-dominant locus has been identified on chromosome 2q23-24, where the SCN1A gene is mapped. However, gene mutations causing simple FS have not been found yet...
  48. Mancardi M, Striano P, Gennaro E, Madia F, Paravidino R, Scapolan S, et al. Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. Epilepsia. 2006;47:1629-35 pubmed
    ..We explored the genetic background of SMEI patients carrying SCN1A mutations to further shed light on the genetics of this disorder...
  49. Abe T, Seo T, Ishitsu T, Nakagawa T, Hori M, Nakagawa K. Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. Br J Clin Pharmacol. 2008;66:304-7 pubmed publisher
    To establish whether the SCN1A IVS5-91 G > A polymorphism of the SCN1A gene, which encodes the neuronal sodium channel alpha subunit, affects responsiveness to the antiepileptic drugs (AEDS) carbamazepine and/or phenytoin...
  50. Wang J, Kurahashi H, Ishii A, Kojima T, Ohfu M, Inoue T, et al. Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy. Epilepsia. 2008;49:1528-34 pubmed publisher
    Genetic abnormalities of the gene encoding alpha1 subunit of the sodium channel (SCN1A), which can be detected by direct sequencing, are present in more than 60% of patients with severe myoclonic epilepsy in infancy (SMEI) or its ..
  51. Gennaro E, Santorelli F, Bertini E, Buti D, Gaggero R, Gobbi G, et al. Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem Biophys Res Commun. 2006;341:489-93 pubmed
    ..epileptic syndrome with onset in the first year of life and is commonly caused by de novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel...
  52. Fukuma G, Oguni H, Shirasaka Y, Watanabe K, Miyajima T, Yasumoto S, et al. Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia. 2004;45:140-8 pubmed
    ..abnormalities within exons and their flanking introns of the genes encoding major subunits of the Na+ channels (SCN1A, SCN2A, SCN1B, and SCN2B) by using a direct sequencing method...
  53. Berkovic S, Harkin L, McMahon J, Pelekanos J, Zuberi S, Wirrell E, et al. De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet Neurol. 2006;5:488-92 pubmed
    ..cases of so-called vaccine encephalopathy could have mutations in the neuronal sodium channel alpha1 subunit gene (SCN1A) because of a clinical resemblance to severe myoclonic epilepsy of infancy (SMEI) for which such mutations have ..
  54. Tate S, Singh R, Hung C, Tai J, Depondt C, Cavalleri G, et al. A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. Pharmacogenet Genomics. 2006;16:721-6 pubmed
    ..A common functional polymorphism in the SCN1A gene (one of the genes encoding the drug target) has been previously associated with maximum dose of phenytoin ..
  55. De Jonghe P. Molecular genetics of Dravet syndrome. Dev Med Child Neurol. 2011;53 Suppl 2:7-10 pubmed publisher
    ..we demonstrated that the majority of Dravet patients have a genetic cause due to loss-of-function mutations in the SCN1A gene...
  56. Auvin S, Dulac O, Vallee L. Do SCN1A mutations protect from hippocampal sclerosis?. Epilepsia. 2008;49:1107-8 pubmed publisher
  57. Volkers L, Kahlig K, Verbeek N, Das J, van Kempen M, Stroink H, et al. Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome. Eur J Neurosci. 2011;34:1268-75 pubmed publisher
    Relatively few SCN1A mutations associated with genetic epilepsy with febrile seizures-plus (GEFS+) and Dravet syndrome (DS) have been functionally characterized...