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Linkage and mutational analysis of CLCN2 in childhood absence epilepsy
Vise andre og tillknytning
2007 (engelsk)Inngår i: Epilepsy Research, ISSN 0920-1211, E-ISSN 1872-6844, Vol. 75, nr 2-3, s. 145-153Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

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.

sted, utgiver, år, opplag, sider
2007. Vol. 75, nr 2-3, s. 145-153
Emneord [en]
Association, Childhood absence epilepsy, CLCN2; Linkage, Mutation screening
HSV kategori
Identifikatorer
URN: urn:nbn:se:uu:diva-14386DOI: 10.1016/j.eplepsyres.2007.05.004ISI: 000248904200009PubMedID: 17580110OAI: oai:DiVA.org:uu-14386DiVA, id: diva2:42156
Tilgjengelig fra: 2008-01-30 Laget: 2008-01-30 Sist oppdatert: 2017-12-11bibliografisk kontrollert

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