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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||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:||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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