Neuronal sodium-channel β1-subunit mutations in generalized epilepsy with febrile seizures plus

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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 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%.

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Wallace, R. H., Scheffer, I. E., Barnett, S., Richards, M., Dibbens, L., Desai, R. R., … Berkovic, S. F. (2001). Neuronal sodium-channel β1-subunit mutations in generalized epilepsy with febrile seizures plus. American Journal of Human Genetics, 68(4), 859–865. https://doi.org/10.1086/319516

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