Ontology highlight
ABSTRACT:
SUBMITTER: Tanaka M
PROVIDER: S-EPMC2427288 | biostudies-literature | 2008 Jun
REPOSITORIES: biostudies-literature
Tanaka Miyabi M Olsen Richard W RW Medina Marco T MT Schwartz Emily E Alonso Maria Elisa ME Duron Reyna M RM Castro-Ortega Ramon R Martinez-Juarez Iris E IE Pascual-Castroviejo Ignacio I Machado-Salas Jesus J Silva Rene R Bailey Julia N JN Bai Dongsheng D Ochoa Adriana A Jara-Prado Aurelio A Pineda Gregorio G Macdonald Robert L RL Delgado-Escueta Antonio V AV
American journal of human genetics 20080601 6
Childhood absence epilepsy (CAE) accounts for 10% to 12% of epilepsy in children under 16 years of age. We screened for mutations in the GABA(A) receptor (GABAR) beta 3 subunit gene (GABRB3) in 48 probands and families with remitting CAE. We found that four out of 48 families (8%) had mutations in GABRB3. One heterozygous missense mutation (P11S) in exon 1a segregated with four CAE-affected persons in one multiplex, two-generation Mexican family. P11S was also found in a singleton from Mexico. A ...[more]