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Gene Review

SCN1B  -  sodium channel, voltage gated, type I beta...

Homo sapiens

Synonyms: ATFB13, BRGDA5, GEFSP1, Sodium channel subunit beta-1
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Disease relevance of SCN1B


High impact information on SCN1B

  • We now report linkage, in another large GEFS+ family, to chromosome region 19q13.1 and identification of a mutation in the voltage-gated sodium (Na+)-channel beta1 subunit gene (SCN1B) [1].
  • Three novel SCN1A mutations-D188V, V1353L, and I1656M-were found in 36 familial cases; of the remaining 33 families, 3 had mutations in SCN1B [5].
  • Linkage analysis has excluded both the beta 1 subunit gene (SCN1B) of a voltage-gated sodium (Na+) channel responsible for GEFS+ and the two loci, FEB1 and FEB2, previously implicated in febrile seizures [6].
  • Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC) [7].
  • The sodium channel beta1 subunit gene (SCN1B) maps to this candidate region and has been shown to be involved in one Australian pedigree with generalized epilepsy and febrile seizures "plus" (GEFS +) [7].

Biological context of SCN1B


Anatomical context of SCN1B


Other interactions of SCN1B


Analytical, diagnostic and therapeutic context of SCN1B

  • To help explore this further, we have carried out an analysis of the detailed structure of the human beta 1 subunit gene (SCN1B) including the delineation of intron-exon boundaries by genomic DNA cloning and sequence analysis [14].
  • Using a 15.9-kb genomic SCN1B clone, we assigned the gene to the long arm of chromosome 19 (19q13.1-q13.2) by fluorescence in situ hybridization [14].
  • Using RT-PCR, we detected transcripts of seven Na(+) channel alpha genes (SCN2A, 3A, 4A, 7A, 8A, 9A, and 11A), and two beta subunit genes (SCN1B and 2B) [15].


  1. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Wallace, R.H., Wang, D.W., Singh, R., Scheffer, I.E., George, A.L., Phillips, H.A., Saar, K., Reis, A., Johnson, E.W., Sutherland, G.R., Berkovic, S.F., Mulley, J.C. Nat. Genet. (1998) [Pubmed]
  2. Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. Tammaro, P., Conti, F., Moran, O. Biochem. Biophys. Res. Commun. (2002) [Pubmed]
  3. Epilepsy and sodium channel gene mutations: gain or loss of function? Yamakawa, K. Neuroreport (2005) [Pubmed]
  4. A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Audenaert, D., Claes, L., Ceulemans, B., Löfgren, A., Van Broeckhoven, C., De Jonghe, P. Neurology (2003) [Pubmed]
  5. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Wallace, R.H., Scheffer, I.E., Barnett, S., Richards, M., Dibbens, L., Desai, R.R., Lerman-Sagie, T., Lev, D., Mazarib, A., Brand, N., Ben-Zeev, B., Goikhman, I., Singh, R., Kremmidiotis, G., Gardner, A., Sutherland, G.R., George, A.L., Mulley, J.C., Berkovic, S.F. Am. J. Hum. Genet. (2001) [Pubmed]
  6. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Baulac, S., Gourfinkel-An, I., Picard, F., Rosenberg-Bourgin, M., Prud'homme, J.F., Baulac, M., Brice, A., LeGuern, E. Am. J. Hum. Genet. (1999) [Pubmed]
  7. Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC). Moulard, B., Buresi, C., Malafosse, A. Hum. Mutat. (2000) [Pubmed]
  8. 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]
  9. 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]
  10. Mutation in the Na+ channel subunit SCN1B produces paradoxical changes in peripheral nerve excitability. Kiernan, M.C., Krishnan, A.V., Lin, C.S., Burke, D., Berkovic, S.F. Brain (2005) [Pubmed]
  11. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Scheffer, I.E., Harkin, L.A., Grinton, B.E., Dibbens, L.M., Turner, S.J., Zielinski, M.A., Xu, R., Jackson, G., Adams, J., Connellan, M., Petrou, S., Wellard, R.M., Briellmann, R.S., Wallace, R.H., Mulley, J.C., Berkovic, S.F. Brain (2007) [Pubmed]
  12. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Wallace, R.H., Scheffer, I.E., Parasivam, G., Barnett, S., Wallace, G.B., Sutherland, G.R., Berkovic, S.F., Mulley, J.C. Neurology (2002) [Pubmed]
  13. 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]
  14. Genomic organization and chromosomal assignment of the human voltage-gated Na+ channel beta 1 subunit gene (SCN1B). Makita, N., Sloan-Brown, K., Weghuis, D.O., Ropers, H.H., George, A.L. Genomics (1994) [Pubmed]
  15. Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells. Platoshyn, O., Remillard, C.V., Fantozzi, I., Sison, T., Yuan, J.X. Pflugers Arch. (2005) [Pubmed]
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