Search: onr:"swepub:oai:DiVA.org:uu-14386" >
Linkage and mutatio...
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy
-
Everett, Kate (author)
-
Chioza, Barry (author)
-
Aicardi, Jean (author)
-
show more...
-
Aschauer, Harald (author)
-
Brouwer, Oebele (author)
-
Callenbach, Petra (author)
-
Covanis, Athanasios (author)
-
Dooley, Joseph (author)
-
Dulac, Olivier (author)
-
Durner, Martina (author)
-
- Eeg-Olofsson, Orvar (author)
- Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten
-
Feucht, Martha (author)
-
Friis, Mogens (author)
-
Guerrini, Renzo (author)
-
Heils, Armin (author)
-
Kjeldsen, Marianne (author)
-
Nabbout, Rima (author)
-
Sander, Thomas (author)
-
Wirrell, Elaine (author)
-
McKeigue, Paul (author)
-
Robinson, Robert (author)
-
Taske, Nichole (author)
-
Gardiner, Mark (author)
-
show less...
-
(creator_code:org_t)
- Elsevier BV, 2007
- 2007
- English.
-
In: Epilepsy Research. - : Elsevier BV. - 0920-1211 .- 1872-6844. ; 75:2-3, s. 145-153
- Related links:
-
https://discovery.uc...
-
show more...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- 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.
Keyword
- Association
- Childhood absence epilepsy
- CLCN2; Linkage
- Mutation screening
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
-
Everett, Kate
-
Chioza, Barry
-
Aicardi, Jean
-
Aschauer, Harald
-
Brouwer, Oebele
-
Callenbach, Petr ...
-
show more...
-
Covanis, Athanas ...
-
Dooley, Joseph
-
Dulac, Olivier
-
Durner, Martina
-
Eeg-Olofsson, Or ...
-
Feucht, Martha
-
Friis, Mogens
-
Guerrini, Renzo
-
Heils, Armin
-
Kjeldsen, Marian ...
-
Nabbout, Rima
-
Sander, Thomas
-
Wirrell, Elaine
-
McKeigue, Paul
-
Robinson, Robert
-
Taske, Nichole
-
Gardiner, Mark
-
show less...
- Articles in the publication
-
Epilepsy Researc ...
- By the university
-
Uppsala University