Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
Wallace RH,
Scheffer IE,
Barnett S,
Richards M,
Dibbens L,
Desai RR,
Lerman-Sagie T,
Lev D,
Mazarib A,
Brand N,
Ben-Zeev B,
Goikhman I,
Singh R,
Kremmidiotis G,
Gardner A,
Sutherland GR,
George AL Jr,
Mulley JC,
Berkovic SF.
The Bionomics/Women's and Children's Hospital Research Facility, Thebarton, South Australia, Australia, 5031. rwallace@wch.bionomics.com.au
Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel beta1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel alpha1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the frequency of mutations in patients with GEFS+. No mutations were found in 17 isolated cases of GEFS+. Three novel SCN1A mutations-D188V, V1353L, and I1656M-were found in 36 familial cases; of the remaining 33 families, 3 had mutations in SCN1B. On the basis of SSCA, the combined frequency of SCN1A and SCN1B mutations in familial cases of GEFS+ was found to be 17%.
PMID: 11254444 [PubMed - indexed for MEDLINE]
PMCID: PMC1275639