Gene Review:
SCN1B - sodium channel, voltage gated, type I beta...
Homo sapiens
Synonyms:
ATFB13, BRGDA5, GEFSP1, Sodium channel subunit beta-1
Kiernan,
Krishnan,
Lin,
Burke,
Berkovic,
Wallace,
Scheffer,
Parasivam,
Barnett,
Wallace,
Sutherland,
Berkovic,
Mulley,
Wallace,
Scheffer,
Barnett,
Richards,
Dibbens,
Desai,
Lerman-Sagie,
Lev,
Mazarib,
Brand,
Ben-Zeev,
Goikhman,
Singh,
Kremmidiotis,
Gardner,
Sutherland,
George,
Mulley,
Berkovic,
Scheffer,
Harkin,
Grinton,
Dibbens,
Turner,
Zielinski,
Xu,
Jackson,
Adams,
Connellan,
Petrou,
Wellard,
Briellmann,
Wallace,
Mulley,
Berkovic,
Ito,
Nagafuji,
Okazawa,
Yamakawa,
Sugawara,
Mazaki-Miyazaki,
Hirose,
Fukuma,
Mitsudome,
Wada,
Kaneko,
Yamakawa,
Moulard,
Buresi,
Malafosse,
- 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)
- 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)
- Epilepsy and sodium channel gene mutations: gain or loss of function? Yamakawa, K. Neuroreport (2005)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)