Familial form of typical childhood absence epilepsy in a consanguineous context.
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.
Abouda
Hanen
H
Service de Neurologie, CHU Razi, La Manouba, Tunisie.
Hizem
Yosr
Y
Gargouri
Amina
A
Depienne
Christel
C
Bouteiller
Delphine
D
Riant
Florence
F
Tournier-Lasserve
Elisabeth
E
Gourfinkel-An
Isabelle
I
LeGuern
Eric
E
Gouider
Riadh
R
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
D000927:Anticonvulsants; D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type