Mutant GABA(A) receptor gamma 2-subunit in childhood absence epilepsy and febrile seizures

Citation
Rh. Wallace et al., Mutant GABA(A) receptor gamma 2-subunit in childhood absence epilepsy and febrile seizures, NAT GENET, 28(1), 2001, pp. 49-52
Citations number
27
Categorie Soggetti
Molecular Biology & Genetics
Journal title
NATURE GENETICS
ISSN journal
10614036 → ACNP
Volume
28
Issue
1
Year of publication
2001
Pages
49 - 52
Database
ISI
SICI code
1061-4036(200105)28:1<49:MGRG2I>2.0.ZU;2-C
Abstract
Epilepsies affect at least 2% of the population at some time in life, and m any forms have genetic determinants(1,2). We have found a mutation in a gen e encoding a GABA, receptor subunit in a large family with epilepsy. The tw o main phenotypes were childhood absence epilepsy (CAE) and febrile seizure s (FS), There is a recognized genetic: relationship between FS and CAE, yet the two syndromes have different ages of onset, and the physiology of abse nces and convulsions is distinct. This suggests the mutation has age-depend ent effects on different neuronal networks that influence the expression of these clinically distinct, but genetically related, epilepsy phenotypes. W e found that the mutation in GABRG2 (encoding the gamma2-subunit) abolished in vitro sensitivity to diazepam, raising the possibility that endozepines do in fact exist and have a physiological role in preventing seizures.