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Linkage and mutatio...
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy
- Article/chapterEnglish2007
Publisher, publication year, extent ...
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Elsevier BV,2007
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-14386
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-14386URI
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https://doi.org/10.1016/j.eplepsyres.2007.05.004DOI
Supplementary language notes
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Language:English
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Summary in:English
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Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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In order to assess the chloride channel gene CLCN2 as a candidate susceptibility gene for childhood absence epilepsy, parametric and non-parametric linkage analysis was performed in 65 nuclear pedigrees. This provided suggestive evidence for linkage with heterogeneity: NPL score=2.3, p<0.009; HLOD=1.5, α=0.44. Mutational analysis of the entire genomic sequence of CLCN2 was performed in 24 unrelated patients from pedigrees consistent with linkage, identifying 45 sequence variants including the known non-synonymous polymorphism rs2228292 (G2154C, Glu718Asp) and a novel variant IVS4+12G>A. Intra-familial association analysis using the pedigrees and a further 308 parent–child trios showed suggestive evidence for transmission disequilibrium of the G2154C minor allele: AVE-PDT , p<0.03. Case–control analysis provided evidence for a protective effect of the IVS4+12G>A minor allele: , p<0.008. The 65 nuclear pedigrees were screened for three previously identified mutations shown to segregate with a variety of idiopathic generalised epilepsy phenotypes (597insG, IVS2-14del11 and G2144A) but none were found. We conclude that CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy.
Subject headings and genre
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Association
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Childhood absence epilepsy
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CLCN2; Linkage
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Mutation screening
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MEDICINE
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MEDICIN
Added entries (persons, corporate bodies, meetings, titles ...)
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Chioza, Barry
(author)
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Aicardi, Jean
(author)
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Aschauer, Harald
(author)
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Brouwer, Oebele
(author)
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Callenbach, Petra
(author)
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Covanis, Athanasios
(author)
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Dooley, Joseph
(author)
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Dulac, Olivier
(author)
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Durner, Martina
(author)
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Eeg-Olofsson, OrvarUppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten(Swepub:uu)orvareo
(author)
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Feucht, Martha
(author)
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Friis, Mogens
(author)
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Guerrini, Renzo
(author)
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Heils, Armin
(author)
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Kjeldsen, Marianne
(author)
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Nabbout, Rima
(author)
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Sander, Thomas
(author)
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Wirrell, Elaine
(author)
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McKeigue, Paul
(author)
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Robinson, Robert
(author)
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Taske, Nichole
(author)
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Gardiner, Mark
(author)
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Uppsala universitetInstitutionen för kvinnors och barns hälsa
(creator_code:org_t)
Related titles
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In:Epilepsy Research: Elsevier BV75:2-3, s. 145-1530920-12111872-6844
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- By the author/editor
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Everett, Kate
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Chioza, Barry
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Aicardi, Jean
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Aschauer, Harald
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Brouwer, Oebele
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Callenbach, Petr ...
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show more...
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Covanis, Athanas ...
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Dooley, Joseph
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Dulac, Olivier
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Durner, Martina
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Eeg-Olofsson, Or ...
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Feucht, Martha
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Friis, Mogens
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Guerrini, Renzo
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Heils, Armin
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Kjeldsen, Marian ...
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Nabbout, Rima
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Sander, Thomas
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Wirrell, Elaine
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McKeigue, Paul
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Robinson, Robert
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Taske, Nichole
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Gardiner, Mark
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Epilepsy Researc ...
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Uppsala University