Familial form of typical childhood absence epilepsy in a consanguineous context

Epilepsia. 2010 Sep;51(9):1889-93. doi: 10.1111/j.1528-1167.2010.02649.x.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anticonvulsants / therapeutic use
  • Black People / genetics
  • Calcium Channels / genetics*
  • Child
  • Consanguinity*
  • Electroencephalography / statistics & numerical data
  • Epilepsy, Absence / diagnosis
  • Epilepsy, Absence / drug therapy
  • Epilepsy, Absence / genetics*
  • Family
  • Female
  • Genetic Linkage
  • Humans
  • Male
  • Pedigree*
  • Phenotype
  • Tunisia / ethnology

Substances

  • Anticonvulsants
  • CACNA1A protein, human
  • Calcium Channels