发育性癫痫性脑病基因治疗展望

doi:10.12372/jcp.2023.23e0540

摘要/Abstract

摘要：

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。

关键词: 发育性癫痫性脑病, 遗传性, 基因治疗

Abstract:

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.

Key words: developmental and epileptic encephalopathy, genetic, gene therapy

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.

JI Taoyun. Prospect of gene therapy for developmental and epileptic encephalopathy[J]. Journal of Clinical Pediatrics, 2023, 41(9): 650-655.

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编码蛋白功能	致病基因
离子通道	SCN1A、SCN1B、SCN2A、SCN3A、SCN8A、KCNA2、KCNB1、KCNC2、KCNQ2、KCNT1、KCNT2、CACNA1A、CACNA1E、GABRA1、GABRA2、GABRA5、GABRB1、GABRB2、GABRB3、GABRG2、GABBR2、FRRS1L、GRIN1、GRIN2B、GRIN2D
膜运输调节	STX1B、STXBP1、CPLX1、NSF、SLC1A2、AP3B2、NAPB
转运蛋白	SLC25A22、SLC25A12、SLC38A3、SLC13A5、SLC12A5、ATP6V1A、ATP1A2、ATP1A3、ATP6V0A1、SLC35A2
细胞骨架蛋白	SPTAN1、ACTL6B
细胞代谢及信号转导	ARX、WWOX、FGF12、FGF13、DMXL2、SZT2、NTRK2、YWHAG
细胞黏附分子	PCDH19