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http://hdl.handle.net/1942/5767
Title: | A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy | Authors: | Audenaert, D. CLAES, Luc Ceulemans, B. Löfgren, A. Van Broeckhoven, C. De Jonghe, P. |
Issue Date: | 2003 | Publisher: | LIPPINCOTT WILLIAMS & WILKINS | Source: | 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. | Keywords: | NEURONAL SODIUM-CHANNEL; GENERALIZED EPILEPSY; BETA-1 SUBUNIT; MUTATION; PLUS | Document URI: | http://hdl.handle.net/1942/5767 | Link to publication/dataset: | http://www.neurology.org/cgi/content/abstract/61/6/854 | ISSN: | 0028-3878 | e-ISSN: | 1526-632X | Category: | A1 | Type: | Journal Contribution |
Appears in Collections: | Research publications |
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