婴儿严重肌阵挛癫痫（severe myoclonic epilepsy of Infancy，SMEI）是一种少见的难治性癫痫综合征，由Dravet等于1982年首次报道，由于并不是所有患儿均有肌阵挛发作，2001年国际抗癫痫联盟（ILAE）推荐将SMEI命名为Dravet综合征，并将其归为癫痫性脑病组。SMEI为遗传性癫痫综合征，发病率约1／30000，男女患病之比为2：1。20％～54％的SMEI患儿有癫痫或热性惊厥家族史，并有同胞儿共患及单卵双胎共患的病例报道，这些特征提示遗传因素在SMEI发病中起重要作用。
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.
