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  • Everett, Kate (author)

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

  • Article/chapterEnglish2007

Publisher, publication year, extent ...

  • Elsevier BV,2007
  • printrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-14386
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-14386URI
  • https://doi.org/10.1016/j.eplepsyres.2007.05.004DOI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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

  • Association
  • Childhood absence epilepsy
  • CLCN2; Linkage
  • Mutation screening
  • MEDICINE
  • MEDICIN

Added entries (persons, corporate bodies, meetings, titles ...)

  • Chioza, Barry (author)
  • Aicardi, Jean (author)
  • Aschauer, Harald (author)
  • Brouwer, Oebele (author)
  • Callenbach, Petra (author)
  • Covanis, Athanasios (author)
  • Dooley, Joseph (author)
  • Dulac, Olivier (author)
  • Durner, Martina (author)
  • Eeg-Olofsson, OrvarUppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten(Swepub:uu)orvareo (author)
  • 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)
  • Uppsala universitetInstitutionen för kvinnors och barns hälsa (creator_code:org_t)

Related titles

  • In:Epilepsy Research: Elsevier BV75:2-3, s. 145-1530920-12111872-6844

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