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A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy

From the Department of Molecular Genetics (Drs. Ceulemans, Van Broeckhoven, and De Jonghe, D. Audenaert, L. Claes, and A. Löfgren), Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Division of Neurology (Drs. Ceulemans and De Jonghe), University Hospital of Antwerp, Edegem, and Epilepsy Centre for Children and Youth (Dr. Ceulemans), Pulderbos, Belgium.

Address correspondence and reprint requests to Dr. P. De Jonghe, Epilepsy Research Group, Department of Molecular Genetics (VIB8), University of Antwerp (UA/UIA), Universiteitsplein 1, 2610 Antwerp, Belgium; e-mail: peter.dejonghe{at}ua.ac.be

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.

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