Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures.
Nat Genet
; 28(1): 49-52, 2001 May.
Article
em En
| MEDLINE
| ID: mdl-11326275
ABSTRACT
Epilepsies affect at least 2% of the population at some time in life, and many forms have genetic determinants. We have found a mutation in a gene encoding a GABA(A) receptor subunit in a large family with epilepsy. The two main phenotypes were childhood absence epilepsy (CAE) and febrile seizures (FS). There is a recognized genetic relationship between FS and CAE, yet the two syndromes have different ages of onset, and the physiology of absences and convulsions is distinct. This suggests the mutation has age-dependent effects on different neuronal networks that influence the expression of these clinically distinct, but genetically related, epilepsy phenotypes. We 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.
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Base de dados:
MEDLINE
Assunto principal:
Epilepsia Tipo Ausência
/
Receptores de GABA-A
/
Convulsões Febris
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article