Advances in genetic developmental and epileptic encephalopathies with movement disorders  

作　　者：Meng Yuan Xiaoqian Wang Zuozhen Yang Huan Luo Jing Gan Rong Luo 

机构地区：[1]Department of Pediatrics,West China Second University Hospital,Sichuan University,Chengdu 610041,China [2]Department of Pediatrics,Yibin Second People’s Hospital,Yibin 644000,China [3]Cipher Gene LLC,Beijing 100089,China

出　　处：《Acta Epileptologica》2025年第1期22-31,共10页癫痫学报(英文)

基　　金：supported by National Natural Science Foundation of China(82071686);Clinical Research Fund of West China Second University Hospital,Sichuan University(KL115,KL072).

摘　　要：Genetic developmental and epileptic encephalopathies(DEE)are often associated with movement disorders.Accurate identification and classification of movement disorders are essential for management of these diseases.In this review,we describe the characteristics of various movement disorders associated with DEE and summarize the distribution of common DEE-related gene mutations reported in previous studies,aiming to provide references for the diagnosis and treatment of these disorders.

关 键 词：Developmental and epileptic encephalopathies GENETIC Movement disorders 

分 类 号：R73[医药卫生—肿瘤]