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Updated: Jun 12, 2026

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Published on: September 20, 2024
Familial form of typical childhood absence epilepsy in a consanguineous context
Hanen Abouda1, Yosr Hizem, Amina Gargouri
1Service de Neurologie, CHU Razi, La Manouba, Tunisie.
Abstract:
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.
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