期刊论文

Advances in genetic etiology,diagnosis and treatment of developmental and epileptic encephalopathy

中文

遗传

0253-9772

2023

45

7

553-567

10.16288/j.yczz.23-105

湖南省卫生健康委重点指导课题(编号:20201910) 南华大学临床医学研究“4310”计划项目(编号:20224310NHYCG11)资助。

本校为第一机构

发育性和癫痫性脑病(developmental and epileptic encephalopathy,DEE)是一组临床和遗传异质的年龄依赖性神经系统疾病,其特征是在婴儿期或儿童早期出现难治性癫痫发作,且受影响的个体...展开更多 发育性和癫痫性脑病(developmental and epileptic encephalopathy,DEE)是一组临床和遗传异质的年龄依赖性神经系统疾病,其特征是在婴儿期或儿童早期出现难治性癫痫发作,且受影响的个体有精神运动发育迟缓或倒退。随着二代测序技术的发展,尤其是全外显子测序技术的应用,越来越多的基因被发现与DEE相关。这些发现将为临床工作中DEE致病基因的检测提供依据,同时将有助于加深对DEE发病机制的理解。本文...

Developmental and epileptic encephalopathy(DEE)is a clinically and genetically heterogeneous group of age-dependent neurological disorders characterized by onset of refractory seizures in infancy or early childhood and affected individuals with delayed or regressive psy...MORE Developmental and epileptic encephalopathy(DEE)is a clinically and genetically heterogeneous group of age-dependent neurological disorders characterized by onset of refractory seizures in infancy or early childhood and affected individuals with delayed or regressive psychomotor development.With the development of next-ge...