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https://hdl.handle.net/2440/28037
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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 1537-6605 |
Statement of Responsibility: | 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. |
DOI: | 10.1086/319516 |
Description (link): | http://www.cell.com/AJHG/ |
Published version: | http://dx.doi.org/10.1086/319516 |
Appears in Collections: | Aurora harvest 2 Molecular and Biomedical Science publications |
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