A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy
- 23 September 2003
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 61 (6), 854-856
- https://doi.org/10.1212/01.wnl.0000080362.55784.1c
Abstract
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.Keywords
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