Gene Review:
BFIS1 - benign familial infantile convulsions
Homo sapiens
Synonyms:
BFIC, BFIC1
- Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Caraballo, R., Pavek, S., Lemainque, A., Gastaldi, M., Echenne, B., Motte, J., Genton, P., Cersósimo, R., Humbertclaude, V., Fejerman, N., Monaco, A.P., Lathrop, M.G., Rochette, J., Szepetowski, P. Am. J. Hum. Genet. (2001)
- Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families. Weber, Y.G., Berger, A., Bebek, N., Maier, S., Karafyllakes, S., Meyer, N., Fukuyama, Y., Halbach, A., Hikel, C., Kurlemann, G., Neubauer, B., Osawa, M., Püst, B., Rating, D., Saito, K., Stephani, U., Tauer, U., Lehmann-Horn, F., Jurkat-Rott, K., Lerche, H. Epilepsia (2004)
- Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy. Gu, W., Sander, T., Becker, T., Steinlein, O.K. Neurogenetics (2004)
- Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. Vanmolkot, K.R., Kors, E.E., Hottenga, J.J., Terwindt, G.M., Haan, J., Hoefnagels, W.A., Black, D.F., Sandkuijl, L.A., Frants, R.R., Ferrari, M.D., van den Maagdenberg, A.M. Ann. Neurol. (2003)
- Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity. Malacarne, M., Gennaro, E., Madia, F., Pozzi, S., Vacca, D., Barone, B., dalla Bernardina, B., Bianchi, A., Bonanni, P., De Marco, P., Gambardella, A., Giordano, L., Lispi, M.L., Romeo, A., Santorum, E., Vanadia, F., Vecchi, M., Veggiotti, P., Vigevano, F., Viri, F., Bricarelli, F.D., Zara, F. Am. J. Hum. Genet. (2001)
- Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Guipponi, M., Rivier, F., Vigevano, F., Beck, C., Crespel, A., Echenne, B., Lucchini, P., Sebastianelli, R., Baldy-Moulinier, M., Malafosse, A. Hum. Mol. Genet. (1997)
- 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)
- Search for alpha4 and alpha7 nicotinic acetylcholine receptor markers in a pedigree of benign familial infantile convulsions (BFIC). Rauschemberger, M.B., Vecchi, C., Barrantes, F.J. Neurochem. Res. (2002)
- No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1. Gennaro, E., Malacarne, M., Carbone, I., Riggio, M.C., Bianchi, A., Bonanni, P., Boniver, C., Dalla Bernardina, B., De Marco, P., Giordano, L., Guerrini, R., Santorum, E., Sebastianelli, R., Vecchi, M., Veggiotti, P., Vigevano, F., Bricarelli, F.D., Zara, F. Epilepsia (1999)
- New insights into the clinical management of partial epilepsies. Hirsch, E., de Saint-Martin, A., Arzimanoglou, A. Epilepsia (2000)
- No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures. Martinelli Boneschi, F., Aridon, P., Zara, F., Guerrini, R., Marini, C., De Fusco, M., Comi, G., Casari, G. Neurosci. Lett. (2005)
- Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. Kato, N., Sadamatsu, M., Kikuchi, T., Niikawa, N., Fukuyama, Y. Epilepsy Res. (2006)
- Ictal and interictal single photon emission computed tomography in a patient with benign familial infantile convulsions. Nagase, T., Takahashi, Y., Iida, S., Masue, M., Okamoto, H., Kondo, N. Journal of neuroimaging : official journal of the American Society of Neuroimaging. (2002)