title: Familial form of typical childhood absence epilepsy in a consanguineous context.
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.
authors.affiliation: Service de Neurologie, CHU Razi, La Manouba, Tunisie.
authors.forename: Hanen
authors.initials: H
authors.lastname: Abouda
authors.forename: Yosr
authors.initials: Y
authors.lastname: Hizem
authors.forename: Amina
authors.initials: A
authors.lastname: Gargouri
authors.forename: Christel
authors.initials: C
authors.lastname: Depienne
authors.forename: Delphine
authors.initials: D
authors.lastname: Bouteiller
authors.forename: Florence
authors.initials: F
authors.lastname: Riant
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Tournier-Lasserve
authors.forename: Isabelle
authors.initials: I
authors.lastname: Gourfinkel-An
authors.forename: Eric
authors.initials: E
authors.lastname: LeGuern
authors.forename: Riadh
authors.initials: R
authors.lastname: Gouider
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D044383:Black People / Q000235:genetics; D015220:Calcium Channels / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D004569:Electroencephalography / Q000706:statistics & numerical data; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014416:Tunisia / Q000208:ethnology; D020864:Calcium Channels, N-Type
chemical_list: D000927:Anticonvulsants; D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type