@article{a2e31bcc841f4ec8b10f2915d4ac80a7,
title = "Neuronal sodium-channel β1-subunit mutations in generalized epilepsy with febrile seizures plus",
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%.",
author = "Wallace, {R. H.} and Scheffer, {I. E.} and S. Barnett and M. Richards and L. Dibbens and Desai, {R. R.} and T. Lerman-Sagie and D. Lev and A. Mazarib and N. Brand and B. Ben-Zeev and I. Goikhman and R. Singh and G. Kremmidiotis and A. Gardner and Sutherland, {G. R.} and George, {A. L.} and Mulley, {J. C.} and Berkovic, {S. F.}",
note = "Funding Information: This project was funded by the National Health and Medical Research Council of Australia, National Institute of Health grant NS 32387 to A.L.G., the Women{\textquoteright}s and Children{\textquoteright}s Hospital Research Foundation, Bionomics Limited, and the Epilepsy Foundation, through the generosity of the Kathy Holden Genetic Research Fund, and by a grant from the Roland and Ruby Holden Foundation, on behalf of Ronald and Arlene Holden. The Israeli families were characterized while S.F.B. was on sabbatical leave at the Department of Neurology, Tel Aviv Sourasky Medical Centre. S.F.B. was sponsored by Prof. Amos Korczyn, Sieratzki Chair in Neurology, Tel Aviv University. We also thank the families for their participation. ",
year = "2001",
doi = "10.1086/319516",
language = "English (US)",
volume = "68",
pages = "859--865",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",
}