D Audenaert, L Claes, B Ceulemans, A Löfgren… - Neurology, 2003 - AAN Enterprises
Generalized epilepsy with febrile seizures (GEFS+) is a clinically and genetically
heterogeneous syndrome with childhood onset, characterized by febrile seizures (FS) and a
variety of afebrile epileptic seizure types. The authors performed a mutational analysis of
SCN1B on 74 unrelated probands with GEFS+, FS, or FS (FS+). In a family with FS+
and early-onset absence epilepsy, a mutation was identified that predicts a deletion of five
amino acids in the extracellular immunoglobulin-like domain of SCN1B and potential loss of …