首页> 中文期刊> 《北京大学学报:医学版》 >全面性癫伴热性惊厥附加症的分子遗传学研究进展

全面性癫伴热性惊厥附加症的分子遗传学研究进展

         

摘要

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 γ2 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.

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