Progress in molecular genetics of generalized epilepsy with febrile seizures plus
- VernacularTitle:全面性癫伴热性惊厥附加症的分子遗传学研究进展
- Author:
Huihui SUN
;
Yuehua ZHANG
- Publication Type:Journal Article
- Keywords:
Epilepsy;
Seizures,febrile;
Genes;
Mutation
- From:
Journal of Peking University(Health Sciences)
2004;0(02):-
- CountryChina
- Language:Chinese
-
Abstract:
Generalized epilepsy with febrile seizures plus(GEFS+)is a familial in herited epileptic syndrome characterized by phenotypic heterogeneity from the mi lder febrile seizures to the severest epileptic encephalopathy such as severe my oclonic epilepsy in infancy(SMEI).GEFS+ is a disorder with a genetic heterogen eity.Molecular genetics have revealed that four genes are associated with the p athogenesis of GEFS+.These include mutations in genes encoding subunits of neur onal voltage-gated sodium channels(SCN1A,SCN1B,SCN2A)and ?2 subunit of the gamma amino-butyric acid(GABA)A receptor(GABRG2).These genes have be en confir med as having a role in autosomal dominant GEFS+ families.In addition,the phen otypes of the affected members may depend on the types and locations of these ge ne mutations.This review states the molecular genetic progress of GEFS+ in brie f.
