发育性癫痫性脑病基因治疗展望

Prospect of gene therapy for developmental and epileptic encephalopathy

发育性癫痫性脑病(DEE)是以早发癫痫、脑电图异常及发育落后或倒退为主要特征的一组疾病,病因复杂,致残率、致死率高。随着二代测序技术的发展,越来越多与DEE相关的遗传性病因被发现,同时也加深了对遗传相关DEE发病机制的研究,为探索不同治疗方法尤其是基因治疗提供了基础,有望在将来开展基因治疗以改善DEE的预后。

Developmental and epileptic encephalopathy(DEE)is a group of heterogeneous disorders characterized by early-onset epilepsy,abnormal electroencephalography and developmental retardation or regression.The etiology of DEE is complex,with high disability rate and fatality rate.With the development of next-generation sequencing technology,more and more genetic causes related to DEE have been discovered,which also deepens the acknowledgement on the pathogenesis of DEE.These researches provide a basis for exploring different treatment methods,especially gene therapy.It is expected that gene therapy will be carried out in the future to improve the prognosis of DEE.