Abstract
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 β1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel α1-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%.
Original language | English (US) |
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Pages (from-to) | 859-865 |
Number of pages | 7 |
Journal | American journal of human genetics |
Volume | 68 |
Issue number | 4 |
DOIs | |
State | Published - 2001 |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)