Temporal lobe epilepsy and GEFS phenotypes associated with SCN1B mutations

Abstract

SCN1B, the gene encoding the sodium channel β 1 subunit, was the first gene identified for generalized epilepsy with febrile seizures plus (GEFS +). Only three families have been published with SCN1B mutations. Here, we present four new families with SCN1B mutations and characterize the associated phenotypes. Analysis of SCN1B was performed on 402 individuals with various epilepsy syndromes. Four probands with missense mutations were identified. Detailed electroclinical phenotyping was performed on all available affected family members including quantitative MR imaging in those with temporal lobe epilepsy (TLE). Two new families with the original C121W SCN1B mutation were identified; novel m..