Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B

Wallace, RH, Scheffer, IE, Parasivam, G, Barnett, S, Wallace, GB, Sutherland, GR, Berkovic, SF and Mulley, JC (2002) Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B. Neurology, 58 9: 1426-1429.

Author Wallace, RH
Scheffer, IE
Parasivam, G
Barnett, S
Wallace, GB
Sutherland, GR
Berkovic, SF
Mulley, JC
Title Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B
Journal name Neurology   Check publisher's open access policy
ISSN 0028-3878
Publication date 2002-01-01
Sub-type Article (original research)
Open Access Status Not yet assessed
Volume 58
Issue 9
Start page 1426
End page 1429
Total pages 4
Place of publication Philadelphia
Publisher Lippincott Williams & Wilkins
Language eng
Abstract Generalized epilepsy with febrile seizures plus (GEFS(+)) is an important childhood genetic epilepsy syndrome with heterogeneous phenotypes, including febrile seizures (FS) and generalized epilepsies of variable severity. Forty unrelated GEFS(+) and FS patients were screened for mutations in the sodium channel beta-subunits SCN1B and SCN2B, and the second GEFS(+) family with an SCN1B mutation is described here. The family had 19 affected individuals: 16 with typical GEFS(+) phenotypes and three with other epilepsy phenotypes. Site-specific mutation within SCN1B remains a rare cause of GEFS(+), and the authors found no evidence to implicate SCN2B in this syndrome.
Keyword Clinical Neurology
Gene
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
Queensland Brain Institute Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 102 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 122 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Mon, 13 Aug 2007, 22:57:26 EST