Linkage and association analysis of CACNG3 in childhood absence epilepsy

Kate V. Everett, Barry Chioza, Jean Aicardi, Harald Aschauer, Oebele Brouwer, Petra Callenbach, Athanasios Covanis, Olivier Dulac, Orvar Eeg-Olofsson, Martha Feucht, Mogens Friis, Françoise Goutieres, Renzo Guerrini, Armin Heils, Marianne Kjeldsen, Anna Elina Lehesjoki, Andrew Makoff, Rima Nabbout, Ingrid Olsson, Thomas SanderAuli Sirén, Paul McKeigue, Robert Robinson, Nichole Taske, Michele Rees, Mark Gardiner

Research output: Contribution to journalArticlepeer-review

Abstract

Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4Hz spike-wave complexes on ictal EEG. A genetic component to aetiology is established but the mechanism of inheritance and the genes involved are not fully defined. Available evidence suggests that genes encoding brain expressed voltage-gated calcium channels, including CACNG3 on chromosome 16p12-p13.1, may represent susceptibility loci for CAE. The aim of this work was to further evaluate CACNG3 as a susceptibility locus by linkage and association analysis. Assuming locus heterogeneity, a significant HLOD score (HLOD=3.54, α=0.62) was obtained for markers encompassing CACNG3 in 65 nuclear families with a proband with CAE. The maximum non-parametric linkage score was 2.87 (P

Original languageEnglish
Pages (from-to)463-472
Number of pages10
JournalEuropean Journal of Human Genetics
Volume15
Issue number4
DOIs
Publication statusPublished - Apr 2007

ASJC Scopus subject areas

  • Genetics(clinical)

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