遗传性发育性和癫痫性脑病伴运动障碍的研究进展。

IF 1.2 Q4 CLINICAL NEUROLOGY

Acta Epileptologica Pub Date : 2025-02-03 DOI:10.1186/s42494-024-00194-z

Meng Yuan, Xiaoqian Wang, Zuozhen Yang, Huan Luo, Jing Gan, Rong Luo

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引用次数: 0

摘要

遗传性发育性和癫痫性脑病（DEE）常与运动障碍相关。准确识别和分类运动障碍是必不可少的管理这些疾病。本文综述了DEE相关的各种运动障碍的特点，并对以往报道的常见DEE相关基因突变的分布进行了总结，旨在为这些疾病的诊断和治疗提供参考。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Advances in genetic developmental and epileptic encephalopathies with movement disorders.

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Advances in genetic developmental and epileptic encephalopathies with movement disorders.

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.

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来源期刊

Acta Epileptologica Medicine-Neurology (clinical)

CiteScore

2.00

自引率

0.00%

发文量

审稿时长

20 weeks