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Type: Journal article
Title: Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus
Author: 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.
Citation: American Journal of Human Genetics, 2001; 68(4):859-865
Publisher: Univ Chicago Press
Issue Date: 2001
ISSN: 0002-9297
Statement of
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 Jr., J.C. Mulley and S.F. Berkovic
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%.
Keywords: Chromosomes, Human, Pair 2; Humans; Epilepsy, Generalized; Seizures, Febrile; Syndrome; Sodium Channels; Nerve Tissue Proteins; Protein Subunits; Cloning, Molecular; Amino Acid Substitution; Pedigree; Sequence Alignment; DNA Mutational Analysis; Amino Acid Sequence; Gene Frequency; Mutation; Polymorphism, Single-Stranded Conformational; Exons; Molecular Sequence Data; Female; Male; Genetic Variation; NAV1.1 Voltage-Gated Sodium Channel
Description: Copyright © 2001 The American Society of Human Genetics Published by Elsevier Inc.
RMID: 0020010608
DOI: 10.1086/319516
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Appears in Collections:Molecular and Biomedical Science publications

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