AI Article Synopsis
- Causative genes for childhood absence epilepsy (CAE) remain unidentified due to small family sizes and diverse symptoms.
- Research focused on five consanguineous Tunisian families with multiple siblings diagnosed with CAE, involving 14 patients.
- Linkage analysis and direct sequencing ruled out four specific genes linked to absence seizures in mice, suggesting these families could reveal the gene(s) responsible for CAE.
Article 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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| http://dx.doi.org/10.1111/j.1528-1167.2010.02649.x | DOI Listing |
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