Ontology highlight
ABSTRACT:
SUBMITTER: Tan HO
PROVIDER: S-EPMC2077291 | biostudies-literature | 2007 Oct
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 20071018 44
Mutations in the GABA(A) receptor gamma2 subunit are associated with childhood absence epilepsy and febrile seizures. To understand better the molecular basis of absence epilepsy in man, we developed a mouse model harboring a gamma2 subunit point mutation (R43Q) found in a large Australian family. Mice heterozygous for the mutation demonstrated behavioral arrest associated with 6-to 7-Hz spike-and-wave discharges, which are blocked by ethosuximide, a first-line treatment for absence epilepsy in ...[more]