A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
D Audenaert, L Claes, B Ceulemans, A Lofgren… - Neurology, 2003 - AAN Enterprises
D Audenaert, L Claes, B Ceulemans, A Lofgren, C Van Broeckhoven, P De Jonghe
Neurology, 2003•AAN EnterprisesGeneralized epilepsy with febrile seizures plus (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 plus (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 …
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 plus (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 …
Generalized epilepsy with febrile seizures plus (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 plus (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 function. SCN1B mutations are associated with GEFS+ and may have a role in the elicitation of absence seizures.
American Academy of Neurology