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Gene Review

SCN1A  -  sodium channel, voltage gated, type I...

Homo sapiens

Synonyms: EIEE6, FEB3, FEB3A, FHM3, GEFSP2, ...
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Disease relevance of SCN1A


Psychiatry related information on SCN1A


High impact information on SCN1A

  • Here, we characterize the functional effects of three mutations in the human neuronal sodium channel alpha subunit SCN1A by heterologous expression with its known accessory subunits, beta1 and beta2, in cultured mammalian cells [8].
  • Lossin and colleagues from Al George's lab report in this issue of Neuron that three missense mutations of SCN1A found in a dominant epilepsy syndrome disrupt inactivation, thereby producing small persistent inward Na(+) currents that may result in hyperexcitability and seizures [9].
  • Haploinsufficiency for the sodium channel SCN1A has been demonstrated by the severe infantile epilepsy and cognitive deficits in heterozygotes for de novo null mutations [10].
  • INTERPRETATION: This controlled trial shows the antiepileptic efficacy, of add-on stiripentol in children with SMEI [11].
  • Our analysis reveals that NAC-1 is significantly overexpressed in ovarian serous carcinomas and several other types of carcinomas [12].

Biological context of SCN1A

  • In GEFS+ families, a mutation in the voltage-gated sodium channel beta1 subunit gene (SCN1B) at chromosome 19q13.1 and two mutations of the same alpha1 subunit gene (SCN1A) at chromosome 2q24 were identified [13].
  • Three point mutations within two voltage-gated sodium channel genes have been identified so far: in GEFS+ type 1 a mutation in the beta1-subunit gene SCN1B, and in GEFS+ type 2 two mutations within the neuronal alpha-subunit gene SCN1A [3].
  • Several missense mutations of the (Na(+))-channel alpha 1 subunit (Nav1.1) gene, SCN1A were also identified in GEFS+2 families at chromosome 2q23-q24 [14].
  • 3. The aim of this report is precisely to describe the phenotypes of Japanese patients with novel SCN1A mutations and to reevaluate the entity of GEFS+ [14].
  • By performing an association study, we used single nucleotide polymorphisms to investigate the distribution of genotypes of SCN1A in patients with FCs [15].

Anatomical context of SCN1A


Associations of SCN1A with chemical compounds

  • All affected individuals who were tested and one asymptomatic individual had a sodium channel mutation of SCN1A, an A-->C transversion at nucleotide 3809 resulting in the substitution of lysine 1270 by threonine in the D3/S2 segment (designated as K1270T) [19].
  • We also show that an intronic polymorphism in the SCN1A gene shows significant association with maximum doses in regular usage of both carbamazepine and phenytoin (P = 0.0051 and P = 0.014, respectively) [20].
  • Sequencing of the SCN1A gene revealed a novel aspartic acid for glycine substitution at position 1742 of this sodium channel subunit [21].
  • Review of the literature indicates that recurrent mutations account for 25% of SCN1A mutations in severe myoclonic epilepsy of infancy, including six sites of deamination at CpG dinucleotides [22].
  • FHM mutations so far identified include those in CACNA1A (P/Q voltage-gated Ca(2+) channel), ATP1A2 (N(+)-K(+)-ATPase) and SCN1A (Na(+) channel) genes [23].

Other interactions of SCN1A


Analytical, diagnostic and therapeutic context of SCN1A


  1. Ion channel variation causes epilepsies. Moulard, B., Picard, F., le Hellard, S., Agulhon, C., Weiland, S., Favre, I., Bertrand, S., Malafosse, A., Bertrand, D. Brain Res. Brain Res. Rev. (2001) [Pubmed]
  2. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Weiss, L.A., Escayg, A., Kearney, J.A., Trudeau, M., MacDonald, B.T., Mori, M., Reichert, J., Buxbaum, J.D., Meisler, M.H. Mol. Psychiatry (2003) [Pubmed]
  3. Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man. Alekov, A.K., Rahman, M.M., Mitrovic, N., Lehmann-Horn, F., Lerche, H. Eur. J. Neurosci. (2001) [Pubmed]
  4. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C., De Jonghe, P. Am. J. Hum. Genet. (2001) [Pubmed]
  5. Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Wallace, R.H., Hodgson, B.L., Grinton, B.E., Gardiner, R.M., Robinson, R., Rodriguez-Casero, V., Sadleir, L., Morgan, J., Harkin, L.A., Dibbens, L.M., Yamamoto, T., Andermann, E., Mulley, J.C., Berkovic, S.F., Scheffer, I.E. Neurology (2003) [Pubmed]
  6. The POZ/BTB protein NAC1 interacts with two different histone deacetylases in neuronal-like cultures. Korutla, L., Wang, P.J., Mackler, S.A. J. Neurochem. (2005) [Pubmed]
  7. Disturbance of phasic chin muscle activity during rapid-eye-movement sleep. Kohyama, J., Ohinata, J., Hasegawa, T. Brain Dev. (2001) [Pubmed]
  8. Molecular basis of an inherited epilepsy. Lossin, C., Wang, D.W., Rhodes, T.H., Vanoye, C.G., George, A.L. Neuron (2002) [Pubmed]
  9. Sodium channel gating: no margin for error. Cannon, S.C. Neuron (2002) [Pubmed]
  10. Identification of epilepsy genes in human and mouse. Meisler, M.H., Kearney, J., Ottman, R., Escayg, A. Annu. Rev. Genet. (2001) [Pubmed]
  11. Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial. STICLO study group. Chiron, C., Marchand, M.C., Tran, A., Rey, E., d'Athis, P., Vincent, J., Dulac, O., Pons, G. Lancet (2000) [Pubmed]
  12. A BTB/POZ protein, NAC-1, is related to tumor recurrence and is essential for tumor growth and survival. Nakayama, K., Nakayama, N., Davidson, B., Sheu, J.J., Jinawath, N., Santillan, A., Salani, R., Bristow, R.E., Morin, P.J., Kurman, R.J., Wang, T.L., Shih, I.e.M. Proc. Natl. Acad. Sci. U.S.A. (2006) [Pubmed]
  13. Molecular genetics of febrile seizures. Iwasaki, N., Nakayama, J., Hamano, K., Matsui, A., Arinami, T. Epilepsia (2002) [Pubmed]
  14. Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A. Ito, M., Nagafuji, H., Okazawa, H., Yamakawa, K., Sugawara, T., Mazaki-Miyazaki, E., Hirose, S., Fukuma, G., Mitsudome, A., Wada, K., Kaneko, S. Epilepsy Res. (2002) [Pubmed]
  15. The lack of association between febrile convulsions and polymorphisms in SCN1A. Chou, I.C., Peng, C.T., Tsai, F.J., Huang, C.C., Shi, Y.R., Tsai, C.H. Epilepsy Res. (2003) [Pubmed]
  16. Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24. Malo, M.S., Blanchard, B.J., Andresen, J.M., Srivastava, K., Chen, X.N., Li, X., Jabs, E.W., Korenberg, J.R., Ingram, V.M. Cytogenet. Cell Genet. (1994) [Pubmed]
  17. Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Depienne, C., Arzimanoglou, A., Trouillard, O., Fedirko, E., Baulac, S., Saint-Martin, C., Ruberg, M., Dravet, C., Nabbout, R., Baulac, M., Gourfinkel-An, I., LeGuern, E. Hum. Mutat. (2006) [Pubmed]
  18. Human neuroblastoma growth inhibitory factor (h-NGIF), derived from human astrocytoma conditioned medium, has neurotrophic properties. Eksioglu, Y.Z., Iida, J., Asai, K., Ueki, T., Nakanishi, K., Isobe, I., Yamagata, K., Kato, T. Brain Res. (1994) [Pubmed]
  19. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Abou-Khalil, B., Ge, Q., Desai, R., Ryther, R., Bazyk, A., Bailey, R., Haines, J.L., Sutcliffe, J.S., George, A.L. Neurology (2001) [Pubmed]
  20. Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Tate, S.K., Depondt, C., Sisodiya, S.M., Cavalleri, G.L., Schorge, S., Soranzo, N., Thom, M., Sen, A., Shorvon, S.D., Sander, J.W., Wood, N.W., Goldstein, D.B. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  21. A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree. Pineda-Trujillo, N., Carrizosa, J., Cornejo, W., Arias, W., Franco, C., Cabrera, D., Bedoya, G., Ruíz-Linares, A. Seizure : the journal of the British Epilepsy Association. (2005) [Pubmed]
  22. Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Kearney, J.A., Wiste, A.K., Stephani, U., Trudeau, M.M., Siegel, A., RamachandranNair, R., Elterman, R.D., Muhle, H., Reinsdorf, J., Shields, W.D., Meisler, M.H., Escayg, A. Pediatric neurology. (2006) [Pubmed]
  23. Recent advances in understanding migraine mechanisms, molecules and therapeutics. Goadsby, P.J. Trends in molecular medicine (2007) [Pubmed]
  24. Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations. Bonanni, P., Malcarne, M., Moro, F., Veggiotti, P., Buti, D., Ferrari, A.R., Parrini, E., Mei, D., Volzone, A., Zara, F., Heron, S.E., Bordo, L., Marini, C., Guerrini, R. Epilepsia (2004) [Pubmed]
  25. Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A. Pereira, S., Vieira, J.P., Barroca, F., Roll, P., Carvalhas, R., Cau, P., Sequeira, S., Genton, P., Szepetowski, P. Neurology (2004) [Pubmed]
  26. Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity. Gennaro, E., Veggiotti, P., Malacarne, M., Madia, F., Cecconi, M., Cardinali, S., Cassetti, A., Cecconi, I., Bertini, E., Bianchi, A., Gobbi, G., Zara, F. Epileptic disorders : international epilepsy journal with videotape. (2003) [Pubmed]
  27. Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping. Weale, M.E., Depondt, C., Macdonald, S.J., Smith, A., Lai, P.S., Shorvon, S.D., Wood, N.W., Goldstein, D.B. Am. J. Hum. Genet. (2003) [Pubmed]
  28. De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Berkovic, S.F., Harkin, L., McMahon, J.M., Pelekanos, J.T., Zuberi, S.M., Wirrell, E.C., Gill, D.S., Iona, X., Mulley, J.C., Scheffer, I.E. Lancet neurology. (2006) [Pubmed]
  29. Genetic predisposition to severe myoclonic epilepsy in infancy. Benlounis, A., Nabbout, R., Feingold, J., Parmeggiani, A., Guerrini, R., Kaminska, A., Dulac, O. Epilepsia (2001) [Pubmed]
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