Gene Symbol: Scn1a
Description: sodium channel, voltage-gated, type I, alpha
Alias: B230332M13, Nav1.1, sodium channel protein type 1 subunit alpha, sodium channel protein brain I subunit alpha, sodium channel protein type I subunit alpha, voltage-gated sodium channel subunit alpha Nav1.1
Species: mouse
Products:     Scn1a

Top Publications

  1. Yu F, Mantegazza M, Westenbroek R, Robbins C, Kalume F, Burton K, et al. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci. 2006;9:1142-9 pubmed
    ..1 channels cause severe myoclonic epilepsy in infancy (SMEI). Homozygous null Scn1a-/- mice developed ataxia and died on postnatal day (P) 15 but could be sustained to P17.5 with manual feeding...
  2. Malo D, Schurr E, Dorfman J, Canfield V, Levenson R, Gros P. Three brain sodium channel alpha-subunit genes are clustered on the proximal segment of mouse chromosome 2. Genomics. 1991;10:666-72 pubmed
    ..proximal segment of mouse chromosome 2 and suggested the probable gene order centromere-Hc-Neb-Pmv7-Scn2a/Scn3a-Scn1a-Mpmv 14...
  3. Cheah C, Yu F, Westenbroek R, Kalume F, Oakley J, Potter G, et al. Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome. Proc Natl Acad Sci U S A. 2012;109:14646-51 pubmed publisher
    ..We generated a floxed Scn1a mouse line and used the Cre-Lox method driven by an enhancer from the Dlx1,2 locus for conditional deletion of ..
  4. Kalume F, Westenbroek R, Cheah C, Yu F, Oakley J, Scheuer T, et al. Sudden unexpected death in a mouse model of Dravet syndrome. J Clin Invest. 2013;123:1798-808 pubmed publisher
    ..syndrome (DS) is an infantile-onset intractable epilepsy caused by heterozygous loss-of-function mutations in the SCN1A gene, which encodes brain type-I voltage-gated sodium channel NaV1.1...
  5. Oakley J, Kalume F, Yu F, Scheuer T, Catterall W. Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy. Proc Natl Acad Sci U S A. 2009;106:3994-9 pubmed publisher
  6. Maier S, Westenbroek R, McCormick K, Curtis R, Scheuer T, Catterall W. Distinct subcellular localization of different sodium channel alpha and beta subunits in single ventricular myocytes from mouse heart. Circulation. 2004;109:1421-7 pubmed
    ..5 plus beta2 and/or beta4 subunits in intercalated disks and Na(v)1.1, Na(v)1.3, and Na(v)1.6 plus beta1 and/or beta3 subunits in the transverse tubules. ..
  7. Han S, Tai C, Westenbroek R, Yu F, Cheah C, Potter G, et al. Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission. Nature. 2012;489:385-90 pubmed publisher
    Haploinsufficiency of the SCN1A gene encoding voltage-gated sodium channel Na(V)1...
  8. 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...
  9. Kalume F, Yu F, Westenbroek R, Scheuer T, Catterall W. Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy. J Neurosci. 2007;27:11065-74 pubmed
    ..Loss of these channels in Purkinje neurons of mutant mice and SMEI patients may be sufficient to cause their ataxia and related functional deficits. ..

More Information


  1. Purcell R, Papale L, Makinson C, Sawyer N, Schroeder J, Escayg A, et al. Effects of an epilepsy-causing mutation in the SCN1A sodium channel gene on cocaine-induced seizure susceptibility in mice. Psychopharmacology (Berl). 2013;228:263-70 pubmed publisher
    ..Mutations in the SCN1A gene, which encodes the central nervous system (CNS) voltage-gated sodium channel (VGSC) Nav1...
  2. Hedrich U, Liautard C, Kirschenbaum D, Pofahl M, Lavigne J, Liu Y, et al. Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutation. J Neurosci. 2014;34:14874-89 pubmed publisher
    Mutations in SCN1A and other ion channel genes can cause different epileptic phenotypes, but the precise mechanisms underlying the development of hyperexcitable networks are largely unknown...
  3. Papale L, Makinson C, Christopher Ehlen J, Tufik S, Decker M, Paul K, et al. Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+). Epilepsia. 2013;54:625-34 pubmed publisher
    Mutations in the voltage-gated sodium channel (VGSC) gene SCN1A are responsible for a number of epilepsy disorders, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome...
  4. Yamagata T, Ogiwara I, Mazaki E, Yanagawa Y, Yamakawa K. Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2. Biochem Biophys Res Commun. 2017;491:1070-1076 pubmed publisher
    Nav1.1 and Nav1.2 are the voltage-gated sodium channel pore-forming alpha I and II subunits, encoded by the genes SCN1A and SCN2A...
  5. De Stasi A, Farisello P, Marcon I, Cavallari S, Forli A, Vecchia D, et al. Unaltered Network Activity and Interneuronal Firing During Spontaneous Cortical Dynamics In Vivo in a Mouse Model of Severe Myoclonic Epilepsy of Infancy. Cereb Cortex. 2016;26:1778-94 pubmed publisher
    Severe myoclonic epilepsy of infancy (SMEI) is associated with loss of function of the SCN1A gene encoding the NaV1.1 sodium channel isoform...
  6. Martin M, Tang B, Papale L, Yu F, Catterall W, Escayg A. The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy. Hum Mol Genet. 2007;16:2892-9 pubmed
    ..contains four voltage-gated sodium channel genes that are primarily expressed in the central nervous system: SCN1A, SCN2A, SCN3A and SCN8A...
  7. Mistry A, Thompson C, Miller A, Vanoye C, George A, Kearney J. Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice. Neurobiol Dis. 2014;65:1-11 pubmed publisher
    Heterozygous loss-of-function SCN1A mutations cause Dravet syndrome, an epileptic encephalopathy of infancy that exhibits variable clinical severity...
  8. Brunham L, Kruit J, Pape T, Timmins J, Reuwer A, Vasanji Z, et al. Beta-cell ABCA1 influences insulin secretion, glucose homeostasis and response to thiazolidinedione treatment. Nat Med. 2007;13:340-7 pubmed
    ..These experiments establish a new role for Abca1 in beta-cell cholesterol homeostasis and insulin secretion, and suggest that cholesterol accumulation may contribute to beta-cell dysfunction in type 2 diabetes...
  9. Lopez Santiago L, Meadows L, Ernst S, Chen C, Malhotra J, McEwen D, et al. Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals. J Mol Cell Cardiol. 2007;43:636-47 pubmed
    ..Together, these results suggest that beta1 is critical for normal cardiac excitability and loss of beta1 may be associated with a long QT phenotype. ..
  10. de la Torre Ubieta L, Won H, Stein J, Geschwind D. Advancing the understanding of autism disease mechanisms through genetics. Nat Med. 2016;22:345-61 pubmed publisher
    ..Despite the challenges, these advances provide a solid foundation for the development of rational, targeted molecular therapies. ..
  11. Calhoun J, Hawkins N, Zachwieja N, Kearney J. Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome. Epilepsia. 2017;58:e111-e115 pubmed publisher
    ..encephalopathy, is most often caused by de novo mutation of the neuronal voltage-gated sodium channel gene SCN1A. Mouse models with deletion of Scn1a recapitulate Dravet syndrome phenotypes, including spontaneous generalized ..
  12. Aiba I, Noebels J. Spreading depolarization in the brainstem mediates sudden cardiorespiratory arrest in mouse SUDEP models. Sci Transl Med. 2015;7:282ra46 pubmed publisher
    ..Mice carrying mutations in Kv1.1 potassium channels (-/-) and Scn1a sodium ion channels (+/R1407X) phenocopy many aspects of human SUDEP...
  13. Hawkins N, Zachwieja N, Miller A, Anderson L, Kearney J. Fine Mapping of a Dravet Syndrome Modifier Locus on Mouse Chromosome 5 and Candidate Gene Analysis by RNA-Seq. PLoS Genet. 2016;12:e1006398 pubmed publisher
    ..b>SCN1A mutations result in a spectrum of severity ranging from mild febrile seizures to Dravet syndrome, an infant-onset ..
  14. Beckers M, Ernst E, Belcher S, Howe J, Levenson R, Gros P. A new sodium channel alpha-subunit gene (Scn9a) from Schwann cells maps to the Scn1a, Scn2a, Scn3a cluster of mouse chromosome 2. Genomics. 1996;36:202-5 pubmed 145 progeny from a Mus spretus x C57BL/6J backcross indicates that Scn9a is very tightly linked to Scn1a (gene encoding the type I sodium channel alpha-subunit of the brain) and forms part of a cluster of four Scna ..
  15. Malo M, Blanchard B, Andresen J, Srivastava K, Chen X, Li X, et al. Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24. Cytogenet Cell Genet. 1994;67:178-86 pubmed
    ..on total human placental DNA with primers specific for the cDNA sequence of the rat brain sodium channel I alpha (Scn1a) gene. One of these sequences was extended bidirectionally by genomic inverse-PCR to obtain a 1.6-kb fragment...
  16. Kalume F, Oakley J, Westenbroek R, Gile J, de la Iglesia H, Scheuer T, et al. Sleep impairment and reduced interneuron excitability in a mouse model of Dravet Syndrome. Neurobiol Dis. 2015;77:141-54 pubmed publisher
    ..1 channels in forebrain GABAergic interneurons without drug treatment. Impairment of NaV currents and excitability of GABAergic RNT neurons are correlated with impaired sleep quality and homeostasis in these mice. ..
  17. Maljevic S, Reid C, Petrou S. Models for discovery of targeted therapy in genetic epileptic encephalopathies. J Neurochem. 2017;143:30-48 pubmed publisher
  18. Crabbe J, Belknap J, Buck K, Metten P. Use of recombinant inbred strains for studying genetic determinants of responses to alcohol. Alcohol Alcohol Suppl. 1994;2:67-71 pubmed
    ..A cluster of genes (Scn1, Scn2, Scn3) code for voltage-sensitive sodium channel proteins. These genes are plausible candidates for affecting withdrawal HIC. ..
  19. Martin M, Dutt K, Papale L, Dubé C, Dutton S, De Haan G, et al. Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. J Biol Chem. 2010;285:9823-34 pubmed publisher
    ..Mutations in the neuronal voltage-gated sodium channel SCN1A are associated with a growing number of disorders including generalized epilepsy with febrile seizures plus (GEFS+)..
  20. Rubinstein M, Westenbroek R, Yu F, Jones C, Scheuer T, Catterall W. Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome. Neurobiol Dis. 2015;73:106-17 pubmed publisher
    ..This mild impairment of excitability of interneurons leads to a milder disease phenotype in 129/SvJ mice, similar to Genetic Epilepsy with Febrile Seizures Plus in humans. ..
  21. Akagi K, Li J, Stephens R, Volfovsky N, Symer D. Extensive variation between inbred mouse strains due to endogenous L1 retrotransposition. Genome Res. 2008;18:869-80 pubmed publisher
    ..expression are altered directly by polymorphic L1 retrotransposons, including Drosha (also called Rnasen), Parp8, Scn1a, Arhgap15, and others, including novel genes...
  22. Catterall W, Dib Hajj S, Meisler M, Pietrobon D. Inherited neuronal ion channelopathies: new windows on complex neurological diseases. J Neurosci. 2008;28:11768-77 pubmed publisher
    ..Overall, these experiments indicate that imbalance in the activity of excitatory and inhibitory neurons is an important underlying cause of these diseases. ..
  23. Hawkins N, Martin M, Frankel W, Kearney J, Escayg A. Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. Neurobiol Dis. 2011;41:655-60 pubmed publisher
    Mutations in the neuronal voltage-gated sodium channel genes SCN1A and SCN2A are associated with inherited epilepsies, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (severe myoclonic epilepsy of ..
  24. Sawyer N, Helvig A, Makinson C, Decker M, Neigh G, Escayg A. Scn1a dysfunction alters behavior but not the effect of stress on seizure response. Genes Brain Behav. 2016;15:335-47 pubmed publisher
    Mutations in the voltage-gated sodium channel gene SCN1A are responsible for a number of epilepsy disorders, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome...
  25. Tai C, Abe Y, Westenbroek R, Scheuer T, Catterall W. Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome. Proc Natl Acad Sci U S A. 2014;111:E3139-48 pubmed publisher
    ..1 sodium channel, Scn1a, revealed substantial reduction of excitability in fast-spiking, parvalbumin-expressing interneurons and ..
  26. Cestele S, Schiavon E, Rusconi R, Franceschetti S, Mantegazza M. Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects. Proc Natl Acad Sci U S A. 2013;110:17546-51 pubmed publisher
    ..Mutations causing FHM type 3 have been identified in SCN1A, the gene encoding the Nav1...
  27. Hodgdon K, Hingtgen C, Nicol G. Dorsal root ganglia isolated from Nf1+/- mice exhibit increased levels of mRNA expression of voltage-dependent sodium channels. Neuroscience. 2012;206:237-44 pubmed publisher
  28. Cheah C, Westenbroek R, Roden W, Kalume F, Oakley J, Jansen L, et al. Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome. Channels (Austin). 2013;7:468-72 pubmed publisher
    Dravet Syndrome (DS) is an intractable genetic epilepsy caused by loss-of-function mutations in SCN1A, the gene encoding brain sodium channel Nav 1.1...
  29. Hessel E, van Lith H, Wolterink Donselaar I, de Wit M, Groot Koerkamp M, Holstege F, et al. Mapping of a FEB3 homologous febrile seizure locus on mouse chromosome 2 containing candidate genes Scn1a and Scn3a. Eur J Neurosci. 2016;44:2950-2957 pubmed publisher
    ..Fmnl2 Ifih1) contained a non-synonymous SNP comparing CSS2 and C57BL/6J, six genes (March7, Nr4a2, Gpd2, Grb14, Scn1a, Scn3a) were differentially expressed between these strains...
  30. Osteen J, Herzig V, Gilchrist J, Emrick J, Zhang C, Wang X, et al. Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain. Nature. 2016;534:494-9 pubmed publisher
    ..Together, these findings establish an unexpected role for Nav1.1 channels in regulating the excitability of sensory nerve fibres that mediate mechanical pain. ..
  31. Haufe V, Camacho J, Dumaine R, Günther B, Bollensdorff C, von Banchet G, et al. Expression pattern of neuronal and skeletal muscle voltage-gated Na+ channels in the developing mouse heart. J Physiol. 2005;564:683-96 pubmed
    ..Our data suggest that neuronal and skeletal muscle Na(+) channels contribute to the action potential of cardiomyocytes in the adult mammalian heart. ..
  32. Rubinstein M, Han S, Tai C, Westenbroek R, Hunker A, Scheuer T, et al. Dissecting the phenotypes of Dravet syndrome by gene deletion. Brain. 2015;138:2219-33 pubmed publisher
    ..These results show that multiple disease traits can arise from similar functional deficits in specific interneuron types. ..
  33. Bice P, Foroud T, Carr L, Zhang L, Liu L, Grahame N, et al. Identification of QTLs influencing alcohol preference in the High Alcohol Preferring (HAP) and Low Alcohol Preferring (LAP) mouse lines. Behav Genet. 2006;36:248-60 pubmed
    ..19; p<0.0008) than male mice (LOD=1.19). This study provides additional evidence and confirmation that specific regions on chromosomes 9 and perhaps 2 are important for alcohol preference. ..
  34. Ohno Y, Ishihara S, Mashimo T, Sofue N, Shimizu S, Imaoku T, et al. Scn1a missense mutation causes limbic hyperexcitability and vulnerability to experimental febrile seizures. Neurobiol Dis. 2011;41:261-9 pubmed publisher
    Mutations of the voltage-gated sodium (Na(v)) channel subunit SCN1A have been implicated in the pathogenesis of human febrile seizures including generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy in ..
  35. Planells Cases R, Caprini M, Zhang J, Rockenstein E, Rivera R, Murre C, et al. Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice. Biophys J. 2000;78:2878-91 pubmed
    ..Death appears to arise from severe hypoxia consequent to the brainstem deficiency of NaChalpha(II). NaChalpha(II) expression is, therefore, redundant for embryonic development but essential for postnatal survival. ..
  36. Fotia A, Ekberg J, Adams D, Cook D, Poronnik P, Kumar S. Regulation of neuronal voltage-gated sodium channels by the ubiquitin-protein ligases Nedd4 and Nedd4-2. J Biol Chem. 2004;279:28930-5 pubmed
    ..Interestingly, Nedd4 suppressed the activity of Na(v)1.2 and Na(v)1.7 but was a poor inhibitor of Na(v)1.8. Our results provide evidence that Nedd4 and Nedd4-2 are likely to be key regulators of specific neuronal Na(v) channels in vivo. ..
  37. Makinson C, Tanaka B, Lamar T, Goldin A, Escayg A. Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance. Neurobiol Dis. 2014;68:16-25 pubmed publisher
    b>SCN1A mutations are the main cause of the epilepsy disorders Dravet syndrome (DS) and genetic epilepsy with febrile seizures plus (GEFS+)...
  38. Ogiwara I, Iwasato T, Miyamoto H, Iwata R, Yamagata T, Mazaki E, et al. Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome. Hum Mol Genet. 2013;22:4784-804 pubmed publisher
    Dravet syndrome is a severe epileptic encephalopathy mainly caused by heterozygous mutations in the SCN1A gene encoding a voltage-gated sodium channel Nav1.1. We previously reported dense localization of Nav1...
  39. 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...
  40. Tsunozaki M, Lennertz R, Vilceanu D, Katta S, Stucky C, Bautista D. A 'toothache tree' alkylamide inhibits A? mechanonociceptors to alleviate mechanical pain. J Physiol. 2013;591:3325-40 pubmed publisher
    ..These results suggest that sanshool targets voltage-gated sodium channels on A? mechanosensory nociceptors to dampen excitability and thus induce 'fast pain' analgesia. ..
  41. Makinson C, Dutt K, Lin F, Papale L, Shankar A, Barela A, et al. An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior. Exp Neurol. 2016;275 Pt 1:46-58 pubmed publisher
    ..To further investigate the relationship between altered SCN8A function and epilepsy, we introduced the SCN1A-R1648H mutation, identified in a family with generalized epilepsy with febrile seizures plus (GEFS+), into the ..
  42. Han S, Yu F, Schwartz M, Linton J, Bosma M, Hurley J, et al. Na(V)1.1 channels are critical for intercellular communication in the suprachiasmatic nucleus and for normal circadian rhythms. Proc Natl Acad Sci U S A. 2012;109:E368-77 pubmed publisher
    ..Mice carrying a heterozygous loss of function mutation in the Scn1a gene (Scn1a(+/-)), which encodes the pore-forming ?-subunit of the Na(V)1...
  43. Azmanov D, Zhelyazkova S, Dimova P, Radionova M, Bojinova V, Florez L, et al. Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family. Epileptic Disord. 2010;12:117-24 pubmed publisher
    b>SCN1A mutations account for a large proportion of Dravet syndrome patients, and are reported in other cases of epilepsy, such as some families with genetic epilepsy with febrile seizures plus (GEFS+)...
  44. Auerbach D, Jones J, Clawson B, Offord J, Lenk G, Ogiwara I, et al. Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome. PLoS ONE. 2013;8:e77843 pubmed publisher
    ..The majority of Dravet syndrome patients have de novo mutations in SCN1A, resulting in haploinsufficiency...
  45. Duflocq A, Le Bras B, Bullier E, Couraud F, Davenne M. Nav1.1 is predominantly expressed in nodes of Ranvier and axon initial segments. Mol Cell Neurosci. 2008;39:180-92 pubmed publisher
    ..This novel distribution suggests that Nav1.1 is involved in the control of action potential generation and propagation. ..
  46. Kim D, Gersbacher M, Inquimbert P, Kovacs D. Reduced sodium channel Na(v)1.1 levels in BACE1-null mice. J Biol Chem. 2011;286:8106-16 pubmed publisher
    ..2 may result in a seizure phenotype. Our data caution that therapeutic BACE1 activity inhibition in Alzheimer disease patients may affect Na(v)1 metabolism and alter neuronal membrane excitability in Alzheimer disease patients. ..
  47. Malhotra J, Thyagarajan V, Chen C, Isom L. Tyrosine-phosphorylated and nonphosphorylated sodium channel beta1 subunits are differentially localized in cardiac myocytes. J Biol Chem. 2004;279:40748-54 pubmed
    ..5 and pYbeta1 and that these complexes are in close association with both N-cadherin and connexin-43. beta1 phosphorylation appears to regulate its localization to differential subcellular domains. ..
  48. Rasband M, Kagawa T, Park E, Ikenaka K, Trimmer J. Dysregulation of axonal sodium channel isoforms after adult-onset chronic demyelination. J Neurosci Res. 2003;73:465-70 pubmed
    ..The altered Nav channel isoform localization and complement induced by demyelination may contribute to the pathophysiology of demyelinating disorders and nerve injury. ..
  49. Albrieux M, Platel J, Dupuis A, Villaz M, Moody W. Early expression of sodium channel transcripts and sodium current by cajal-retzius cells in the preplate of the embryonic mouse neocortex. J Neurosci. 2004;24:1719-25 pubmed
    ..These results raise the possibility that populations of pioneer neurons of the PP, including Cajal-Retzius cells, gain neuronal physiological properties early in development via expression of the Na(v)1.3 (SCN3) Na channel isoform. ..
  50. Tang B, Dutt K, Papale L, Rusconi R, Shankar A, Hunter J, et al. A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation. Neurobiol Dis. 2009;35:91-102 pubmed publisher
    Mutations in the voltage-gated sodium channel SCN1A are responsible for a number of seizure disorders including Generalized Epilepsy with Febrile Seizures Plus (GEFS+) and Severe Myoclonic Epilepsy of Infancy (SMEI)...
  51. Hawkins N, Lewis M, Hammond R, Doherty J, Kearney J. The synthetic neuroactive steroid SGE-516 reduces seizure burden and improves survival in a Dravet syndrome mouse model. Sci Rep. 2017;7:15327 pubmed publisher
    ..In this study, we evaluated activity of SGE-516 on epilepsy phenotypes in the Scn1a +/- mouse model that recapitulates many features of Dravet syndrome, including spontaneous seizures, ..
  52. Tsai M, Lee M, Chang C, Fan H, Yu I, Chen Y, et al. Functional and structural deficits of the dentate gyrus network coincide with emerging spontaneous seizures in an Scn1a mutant Dravet Syndrome model during development. Neurobiol Dis. 2015;77:35-48 pubmed publisher
    ..A primary monogenic cause is mutation of the SCN1A gene, which encodes the voltage-gated sodium channel subunit Nav1.1...
  53. Miller A, Hawkins N, McCollom C, Kearney J. Mapping genetic modifiers of survival in a mouse model of Dravet syndrome. Genes Brain Behav. 2014;13:163-72 pubmed publisher
    ..More than 800 mutations in the voltage-gated sodium channel SCN1A have been reported in patients with generalized epilepsy with febrile seizures plus and Dravet syndrome...