Advances in genetic developmental and epileptic encephalopathies with movement disorders

被引：2

作者：

Yuan, Meng ^{[1
,2
]}

Wang, Xiaoqian ^{[1
]}

Yang, Zuozhen ^{[3
]}

Luo, Huan ^{[1
]}

Gan, Jing ^{[1
]}

Luo, Rong ^{[1
]}

机构：

[1] Sichuan Univ, West China Second Univ Hosp, Dept Pediat, Chengdu 610041, Peoples R China

[2] Yibin Second Peoples Hosp, Dept Pediat, Yibin 644000, Peoples R China

[3] Cipher Gene LLC, Beijing 100089, Peoples R China

来源：

ACTA EPILEPTOLOGICA | 2025年 / 7卷 / 01期

基金：

中国国家自然科学基金;

关键词：

Developmental and epileptic encephalopathies; Genetic; Movement disorders; DE-NOVO MUTATIONS; OF-FUNCTION MUTATIONS; EARLY-ONSET EPILEPSY; PHENOTYPIC SPECTRUM; MOLECULAR CHARACTERIZATION; CLINICAL SPECTRUM; TREATMENT OPTIONS; RETT-SYNDROME; CLASSIFICATION; SEIZURES;

D O I：

10.1186/s42494-024-00194-z

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

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.

引用

页数：10

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