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Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus

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dc.contributor.authorWallace, R.
dc.contributor.authorScheffer, I.
dc.contributor.authorBarnett, S.
dc.contributor.authorRichards, M.
dc.contributor.authorDibbens, L.
dc.contributor.authorDesai, R.
dc.contributor.authorLerman-Sagie, T.
dc.contributor.authorLev, D.
dc.contributor.authorMazarib, A.
dc.contributor.authorBrand, N.
dc.contributor.authorBen-Zeev, B.
dc.contributor.authorGoikhman, I.
dc.contributor.authorSingh, R.
dc.contributor.authorKremmidiotis, G.
dc.contributor.authorGardner, A.
dc.contributor.authorSutherland, G.
dc.contributor.authorGeorge Jr., A.
dc.contributor.authorMulley, J.
dc.contributor.authorBerkovic, S.
dc.date.issued2001
dc.descriptionCopyright © 2001 The American Society of Human Genetics Published by Elsevier Inc.
dc.description.abstractGeneralized 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%.
dc.description.statementofresponsibilityR.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
dc.description.urihttp://www.cell.com/AJHG/
dc.identifier.citationAmerican Journal of Human Genetics, 2001; 68(4):859-865
dc.identifier.doi10.1086/319516
dc.identifier.issn0002-9297
dc.identifier.issn1537-6605
dc.identifier.orcidGardner, A. [0009-0009-7321-1697]
dc.identifier.urihttp://hdl.handle.net/2440/28037
dc.language.isoen
dc.publisherUniv Chicago Press
dc.source.urihttps://doi.org/10.1086/319516
dc.subjectChromosomes, Human, Pair 2
dc.subjectHumans
dc.subjectEpilepsy, Generalized
dc.subjectSeizures, Febrile
dc.subjectSyndrome
dc.subjectSodium Channels
dc.subjectNerve Tissue Proteins
dc.subjectProtein Subunits
dc.subjectCloning, Molecular
dc.subjectAmino Acid Substitution
dc.subjectPedigree
dc.subjectSequence Alignment
dc.subjectDNA Mutational Analysis
dc.subjectAmino Acid Sequence
dc.subjectGene Frequency
dc.subjectMutation
dc.subjectPolymorphism, Single-Stranded Conformational
dc.subjectExons
dc.subjectMolecular Sequence Data
dc.subjectFemale
dc.subjectMale
dc.subjectGenetic Variation
dc.subjectNAV1.1 Voltage-Gated Sodium Channel
dc.titleNeuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus
dc.typeJournal article
pubs.publication-statusPublished

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