PubMed 20561025

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav2.1 , cacna2d2 , cacnb4 , cacng2

Title: Familial form of typical childhood absence epilepsy in a consanguineous context.

Authors: Hanen Abouda, Yosr Hizem, Amina Gargouri, Christel Depienne, Delphine Bouteiller, Florence Riant, Elisabeth Tournier-Lasserve, Isabelle Gourfinkel-An, Eric LeGuern, Riadh Gouider

Journal, date & volume: Epilepsia, 2010 Sep , 51, 1889-93

PubMed link:

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 autosomal recessive (AR) absence seizures in mice. These families will help identify (a) gene(s) responsible for CAE.