Article
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy.
Epilepsy research - 1 Jul 2007
Everett Kate, Chioza Barry, Aicardi Jean, Aschauer Harald, Brouwer Oebele, Callenbach Petra, Covanis Athanasios, Dooley Joseph, Dulac Olivier, Durner Martina, Eeg-Olofsson Orvar, Feucht Martha, Friis Mogens, Guerrini Renzo, Heils Armin, Kjeldsen Marianne, Nabbout Rima, Sander Thomas, Wirrell Elaine, McKeigue Paul, Robinson Robert, Taske Nichole, Gardiner Mark
Abstract excerpt
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, alpha=0.44. Mutational analysis of the entire genomic sequence of CLCN2 was performed in 24 unrelated patients...
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