Referenced in: none

Automatically associated channels: Kv10.1 , Nav1.2 , Nav1.3

Title: A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

Authors: S Baulac, I Gourfinkel-An, F Picard, M Rosenberg-Bourgin, J F Prud'homme, M Baulac, A Brice, E LeGuern

Journal, date & volume: Am. J. Hum. Genet., 1999 Oct , 65, 1078-85

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/10486327

Abstract
We report a clinical and genetic study of a family with a phenotype resembling generalized epilepsy with febrile seizures plus (GEFS+), described by Berkovic and colleagues. Patients express a very variable phenotype combining febrile seizures, generalized seizures often precipitated by fever at age >6 years, and partial seizures, with a variable degree of severity. Linkage analysis has excluded both the beta 1 subunit gene (SCN1B) of a voltage-gated sodium (Na+) channel responsible for GEFS+ and the two loci, FEB1 and FEB2, previously implicated in febrile seizures. A genomewide search, under the assumption of incomplete penetrance at 85% and a phenocopy rate of 5%, permitted identification of a new locus on chromosome 2q21-q33. The maximum pairwise LOD score was 3.00 at recombination fraction 0 for marker D2S2330. Haplotype reconstruction defined a large (22-cM) candidate interval flanked by markers D2S156 and D2S2314. Four genes coding for different isoforms of the alpha-subunit voltage-gated sodium channels (SCN1A, SCN2A1, SCN2A2, and SCN3A) located in this region are strong candidates for the disease gene.