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

R. H. Wallace, I. E. Scheffer, S. Barnett, M. Richards, L. Dibbens, R. R. Desai, T. Lerman-Sagie, D. Lev, A. Mazarib, N. Brand, B. Ben-Zeev, I. Goikhman, R. Singh, G. Kremmidiotis, A. Gardner, G. R. Sutherland, A. L. George, J. C. Mulley, S. F. Berkovic

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325 Scopus citations


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 languageEnglish (US)
Pages (from-to)859-865
Number of pages7
JournalAmerican journal of human genetics
Issue number4
StatePublished - 2001

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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