Analysis of pathogenic genes and phenotypic characteristics of 81 children with epilepsy and movement disorders

Objective To summarize the pathogenic gene mutation spectrum and related phenotypic characteristics in children with epilepsy accompanied by movement disorders (E-MD). Methods Retrospective analysis was conducted on 81 children with genetically confirmed E-MD who were treated in Department of Pediat...

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מידע ביבליוגרפי

Principais autores:	TAO Yichen, WANG Chu, XU Xiaoqing, DAI Yuanyuan, LI Rui, FAN Hongbin
פורמט:	Artigo
שפה:	Chinês
יצא לאור:	Editorial Office of Journal of Xuzhou Medical University 2025-10-01
סדרה:	徐州医科大学学报
נושאים:	epilepsy movement disorders gene mutation whole-exome sequencing scn1a prrt2 drpla
גישה מקוונת:	https://xb.xzhmu.edu.cn/article/doi/10.12467/j.issn.2096-3882.20250064
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