全面性癫伴热性惊厥附加症电压门控钠离子通道基因的研究进展

Study Progress of Voltaged-Gated Sodium Channel Gene in Generalized Epilepsy with Febrile Seizures Plus

全面性癫伴热性惊厥附加症(GEFS+)是国际抗癫联盟新近提出的一种新的癫综合征。在家系分析的基础上,目前GEFS+的遗传学研究主要集中在基因定位方面,研究表明GEFS+与编码电压依赖性Na+通道(SCN)基因突变有关。现就GEFS+与SCN1B、SCN2B、SCN1A、SCN2A基因突变的关系进行综述,旨在提高对本病的认识。

Generalized epilepsy with febrile seizures plus （ GEFS ^＋ ） is a new epilepsy syndrome proposed by International League Against Epilepsy. At present, the progress of genetic studies of GEFS ^＋ focus on gene mapping based on family analysis, many researches indicate that GEFS ^＋ is associated with vohaged - gated sodium channel（SCN） gene mutation. This paper intends to discuss the relationship beween GEFS ^＋ and SCN1B ,SCN2B, SCN1 A, SCN2A genes, mutations in order to improve the cognition about GEFS ^＋.