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http://hdl.handle.net/1942/5767
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DC Field | Value | Language |
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dc.contributor.author | Audenaert, D. | - |
dc.contributor.author | CLAES, Luc | - |
dc.contributor.author | Ceulemans, B. | - |
dc.contributor.author | Löfgren, A. | - |
dc.contributor.author | Van Broeckhoven, C. | - |
dc.contributor.author | De Jonghe, P. | - |
dc.date.accessioned | 2007-12-20T16:01:51Z | - |
dc.date.available | 2007-12-20T16:01:51Z | - |
dc.date.issued | 2003 | - |
dc.identifier.citation | Neurology, 61(6). p. 854-856 | - |
dc.identifier.issn | 0028-3878 | - |
dc.identifier.uri | http://hdl.handle.net/1942/5767 | - |
dc.description.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. | - |
dc.language.iso | en | - |
dc.publisher | LIPPINCOTT WILLIAMS & WILKINS | - |
dc.subject.other | NEURONAL SODIUM-CHANNEL; GENERALIZED EPILEPSY; BETA-1 SUBUNIT; MUTATION; PLUS | - |
dc.title | A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy | - |
dc.type | Journal Contribution | - |
dc.identifier.epage | 856 | - |
dc.identifier.issue | 6 | - |
dc.identifier.spage | 854 | - |
dc.identifier.volume | 61 | - |
local.bibliographicCitation.jcat | A1 | - |
local.type.refereed | Refereed | - |
local.type.specified | Article | - |
dc.bibliographicCitation.oldjcat | A1 | - |
dc.identifier.url | http://www.neurology.org/cgi/content/abstract/61/6/854 | - |
item.contributor | Audenaert, D. | - |
item.contributor | CLAES, Luc | - |
item.contributor | Ceulemans, B. | - |
item.contributor | Löfgren, A. | - |
item.contributor | Van Broeckhoven, C. | - |
item.contributor | De Jonghe, P. | - |
item.accessRights | Closed Access | - |
item.fullcitation | Audenaert, D.; CLAES, Luc; Ceulemans, B.; Löfgren, A.; Van Broeckhoven, C. & De Jonghe, P. (2003) A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. In: Neurology, 61(6). p. 854-856. | - |
item.fulltext | No Fulltext | - |
crisitem.journal.issn | 0028-3878 | - |
crisitem.journal.eissn | 1526-632X | - |
Appears in Collections: | Research publications |
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