Article
Familial form of typical childhood absence epilepsy in a consanguineous context.
Epilepsia - 1 Sept 2010
Abouda Hanen, Hizem Yosr, Gargouri Amina, Depienne Christel, Bouteiller Delphine, Riant Florence, Tournier-Lasserve Elisabeth, Gourfinkel-An Isabelle, LeGuern Eric, Gouider Riadh
Abstract excerpt
Causative genes for childhood absence epilepsy (CAE) are unknown partly because families are small or phenotypically heterogeneous. In five consanguineous Tunisian families with at least two sibs with CAE, 14 patients fulfilled the diagnostic criteria for CAE (Epilepsia 1989; 30:389-399). Linkage analyses or direct sequencing excluded CACNG2, CACNA1A, CACNB4, and CACNA2D2, orthologs of genes responsible for...
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