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|Title: ||A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy|
|Authors: ||Audenaert, D.|
Van Broeckhoven, C.
De Jonghe, P.
|Issue Date: ||2003|
|Publisher: ||LIPPINCOTT WILLIAMS & WILKINS|
|Citation: ||Neurology, 61(6). p. 854-856|
|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.|
|Link to publication: ||http://www.neurology.org/cgi/content/abstract/61/6/854|
|Type: ||Journal Contribution|
|Appears in Collections: ||Research publications|
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