Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus |
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| Authors: | Wallace R H Scheffer I E Barnett S Richards M Dibbens L Desai R R Lerman-Sagie T Lev D Mazarib A Brand N Ben-Zeev B Goikhman I Singh R Kremmidiotis G Gardner A Sutherland G R George A L Mulley J C Berkovic S F |
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| Affiliation: | The Bionomics/Women's and Children's Hospital Research Facility, Thebarton, South Australia, Australia, 5031. rwallace@wch.bionomics.com.au |
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| 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 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%. |
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