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Sodium Channel Voltage Gated Type I Alpha (SCN1a)

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FEB3; GEFSP2; HBSCI; NAC1; Nav1.1; SCN1; SMEI; Febrile Convulsions 3; Sodium channel protein brain I subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.1

Sodium Channel Voltage Gated Type I Alpha (SCN1a)
CCC L091
HGNC 10585
MGI 98246
PubMed 23586701
RGD 69364
UniProt P35498
Wiki Nav1.1
SCN1aencodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Three transcript variants encoding different isoforms have been found for this gene.
Functional studies have indicated that the transmembrane alpha subunit of the brain sodium channels is sufficient for expression of functional sodium channels.Brain sodium channel alpha subunits form a gene subfamily with several structurally distinct isoforms clustering on chromosome 2q24, types I, II (Nav1.2), and III (Nav1.3). There are also several distinct sodium channel alpha subunit isoforms in skeletal and cardiac muscle (Nav1.4 and Nav1.5, respectively).

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sodium Channel Voltage Gated Type I Alpha (SCN1a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sodium Channel Voltage Gated Type I Alpha (SCN1a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sodium Channel Voltage Gated Type I Alpha (SCN1a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sodium Channel Voltage Gated Type I Alpha (SCN1a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sodium Channel Voltage Gated Type I Alpha (SCN1a) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sodium Channel Voltage Gated Type I Alpha (SCN1a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sodium Channel Voltage Gated Type I Alpha (SCN1a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sodium Channel Voltage Gated Type I Alpha (SCN1a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sodium Channel Voltage Gated Type I Alpha (SCN1a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sodium Channel Voltage Gated Type I Alpha (SCN1a) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Sodium Channel Voltage Gated Type I Alpha (SCN1a) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Sodium Channel Voltage Gated Type I Alpha (SCN1a) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Sodium Channel Voltage Gated Type I Alpha (SCN1a) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Sodium Channel Voltage Gated Type I Alpha (SCN1a) CLIA Kit Customized Service Offer
n/a ELISA Kit for Sodium Channel Voltage Gated Type I Alpha (SCN1a) ELISA Kit Customized Service Offer
  1. "Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2."Nat. Genet. 24:343-345(2000) [PubMed] [Europe PMC] [Abstract]
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  3. "Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24."Cytogenet. Cell Genet. 67:178-186(1994) [PubMed] [Europe PMC] [Abstract]
  4. "Differential expression of two sodium channel subtypes in human brain."FEBS Lett. 303:53-58(1992) [PubMed] [Europe PMC] [Abstract]
  5. "Identification of novel interaction sites that determine specificity between fibroblast growth factor homologous factors and voltage-gated sodium channels."J. Biol. Chem. 286:24253-24263(2011) [PubMed] [Europe PMC] [Abstract]
  6. "Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus."Am. J. Hum. Genet. 68:859-865(2001) [PubMed] [Europe PMC] [Abstract]
  7. "A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy."Am. J. Hum. Genet. 68:866-873(2001) [PubMed] [Europe PMC] [Abstract]
  8. "De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy."Am. J. Hum. Genet. 68:1327-1332(2001) [PubMed] [Europe PMC] [Abstract]
  9. "Na(v)1.1 mutations cause febrile seizures associated with afebrile partial seizures."Neurology 57:703-705(2001) [PubMed] [Europe PMC] [Abstract]
  10. "Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation."Neurology 57:2265-2272(2001) [PubMed] [Europe PMC] [Abstract]
  11. "Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy."Biochem. Biophys. Res. Commun. 295:17-23(2002) [PubMed] [Europe PMC] [Abstract]
  12. "Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures."Brain 126:531-546(2003) [PubMed] [Europe PMC] [Abstract]
  13. "Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus."Epilepsia 44:1257-1258(2003) [PubMed] [Europe PMC] [Abstract]
  14. "De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy."Hum. Mutat. 21:615-621(2003) [PubMed] [Europe PMC] [Abstract]
  15. "Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A."J. Neurosci. 23:11289-11295(2003) [PubMed] [Europe PMC] [Abstract]
  16. "Sodium channels SCN1A, SCN2A and SCN3A in familial autism."Mol. Psychiatry 8:186-194(2003) [PubMed] [Europe PMC] [Abstract]
  17. "Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy." Neurology 60:1961-1967(2003) [PubMed] [Europe PMC] [Abstract]
  18. "Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms."Neurology 61:765-769(2003) [PubMed] [Europe PMC] [Abstract]
  19. "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 45:140-148(2004) [PubMed] [Europe PMC] [Abstract]
  20. "A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction."J. Neurosci. 24:10022-10034(2004) [PubMed] [Europe PMC] [Abstract]
  21. "Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy."Pediatr. Neurol. 30:236-243(2004) [PubMed] [Europe PMC] [Abstract]
  22. "A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures."Brain Dev. 27:424-430(2005) [PubMed] [Europe PMC] [Abstract]
  23. "A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures."Epilepsy Res. 63:151-156(2005) [PubMed] [Europe PMC] [Abstract]
  24. "Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine."Lancet 366:371-377(2005) [PubMed] [Europe PMC] [Abstract]
  25. "SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures."Neuropediatrics 36:210-213(2005) [PubMed] [Europe PMC] [Abstract]
  26. "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. 102:18177-18182(2005) [PubMed] [Europe PMC] [Abstract]
  27. "A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree."Seizure 14:123-128(2005) [PubMed] [Europe PMC] [Abstract]
  28. "Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations." Epilepsia 47:1629-1635(2006) [PubMed] [Europe PMC] [Abstract]
  29. "An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability."J. Neurosci. 26:2714-2723(2006) [PubMed] [Europe PMC] [Abstract]
  30. "De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study."Lancet Neurol. 5:488-492(2006) [PubMed] [Europe PMC] [Abstract]
  31. "Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy."Pediatr. Neurol. 34:116-120(2006) [PubMed] [Europe PMC] [Abstract]
  32. "The spectrum of SCN1A-related infantile epileptic encephalopathies." Brain 130:843-852(2007) [PubMed] [Europe PMC] [Abstract]
  33. "Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities."Epilepsia 48:1678-1685(2007) [PubMed] [Europe PMC] [Abstract]
  34. "Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation."Epilepsy Res. 75:46-51(2007) [PubMed] [Europe PMC] [Abstract]
  35. "The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online."Hum. Mutat. 28:522-522(2007) [PubMed] [Europe PMC] [Abstract]
  36. "Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3."Pediatr. Neurol. 37:407-410(2007) [PubMed] [Europe PMC] [Abstract]
  37. "Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified."Arch. Neurol. 65:489-494(2008) [PubMed] [Europe PMC] [Abstract]
  38. "Rasmussen encephalitis associated with SCN 1 A mutation."Epilepsia 49:521-526(2008) [PubMed] [Europe PMC] [Abstract]
  39. "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. 68:214-220(2009) [PubMed] [Europe PMC] [Abstract]
  40. "Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations."Neurology 72:1178-1183(2009) [PubMed] [Europe PMC] [Abstract]
  41. "Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A."Seizure 18:492-497(2009) [PubMed] [Europe PMC] [Abstract]
  42. "Two novel mutations in SCN1A gene in Iranian patients with epilepsy."Arch. Med. Res. 41:207-214(2010) [PubMed] [Europe PMC] [Abstract]
  43. "Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients."Epilepsy Res. 90:132-139(2010) [PubMed] [Europe PMC] [Abstract]
  44. "Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation."Eur. J. Paediatr. Neurol. 14:456-459(2010) [PubMed] [Europe PMC] [Abstract]
  45. "Four novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI)."J. Child Neurol. 25:1265-1268(2010) [PubMed] [Europe PMC] [Abstract]
  46. "Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy)."J. Child Neurol. 25:1369-1376(2010) [PubMed] [Europe PMC] [Abstract]
  47. "Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome."J. Hum. Genet. 55:421-427(2010) [PubMed] [Europe PMC] [Abstract]
  48. "De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin."J. Med. Genet. 47:137-141(2010) [PubMed] [Europe PMC] [Abstract]
  49. "Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome."J. Med. Genet. 47:404-410(2010) [PubMed] [Europe PMC] [Abstract]
  50. "Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus."Neurosci. Lett. 480:211-214(2010) [PubMed] [Europe PMC] [Abstract]
  51. "Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy."Pediatr. Int. 52:234-239(2010) [PubMed] [Europe PMC] [Abstract]
  52. "Generalized epilepsy with febrile seizures plus: novel SCN1A mutation."Pediatr. Neurol. 42:137-140(2010) [PubMed] [Europe PMC] [Abstract]
  53. "Targeted next generation sequencing as a diagnostic tool in epileptic disorders." Epilepsia 53:1387-1398(2012) [PubMed] [Europe PMC] [Abstract]