Please use this identifier to cite or link to this item: 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: 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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