Wallace, R.Scheffer, I.Barnett, S.Richards, M.Dibbens, L.Desai, R.Lerman-Sagie, T.Lev, D.Mazarib, A.Brand, N.Ben-Zeev, B.Goikhman, I.Singh, R.Kremmidiotis, G.Gardner, A.Sutherland, G.George Jr., A.Mulley, J.Berkovic, S.2007-05-112007-05-112001American Journal of Human Genetics, 2001; 68(4):859-8650002-92971537-6605http://hdl.handle.net/2440/28037Copyright © 2001 The American Society of Human Genetics Published by Elsevier Inc.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%.enChromosomes, Human, Pair 2HumansEpilepsy, GeneralizedSeizures, FebrileSyndromeSodium ChannelsNerve Tissue ProteinsProtein SubunitsCloning, MolecularAmino Acid SubstitutionPedigreeSequence AlignmentDNA Mutational AnalysisAmino Acid SequenceGene FrequencyMutationPolymorphism, Single-Stranded ConformationalExonsMolecular Sequence DataFemaleMaleGenetic VariationNAV1.1 Voltage-Gated Sodium ChannelJournal article002001060810.1086/3195160001676660000072-s2.0-003507429461925Gardner, A. [0009-0009-7321-1697]