发育性癫痫性脑病基因治疗展望
收稿日期: 2023-06-20
网络出版日期: 2023-09-05
基金资助
中央高水平医院临床科研业务费资助（北京大学第一医院国内多中心临床研究专项）(2022CR60)
Prospect of gene therapy for developmental and epileptic encephalopathy
Received date: 2023-06-20
Online published: 2023-09-05
季涛云 . 发育性癫痫性脑病基因治疗展望[J]. 临床儿科杂志, 2023 , 41(9) : 650 -655 . DOI: 10.12372/jcp.2023.23e0540
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.
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