Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B

Abstract

Generalized epilepsy with febrile seizures plus (GEFS+) is an important childhood genetic epilepsy syndrome with heterogeneous phenotypes, including febrile seizures (FS) and generalized epilepsies of variable severity. Forty unrelated GEFS+ and FS patients were screened for mutations in the sodium channel β-subunits SCN1B and SCN2B, and the second GEFS+ family with an SCN1B mutation is described here. The family had 19 affected individuals: 16 with typical GEFS+ phenotypes and three with other epilepsy phenotypes. Site-specific mutation within SCN1B remains a rare cause of GEFS+, and the authors found no evidence to implicate SCN2B in this syndrome.