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Updated: Jan 8, 2026

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对MEF2C相关的神经发育障碍的临床表型和遗传特征的比较分析

Xin Li1, Jia-Jun Ma1, Lin-Xue Meng1

  • 1Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing City 400014, China; National Clinical Research Center for Child Health and Disorders, China; Ministry of Education Key Laboratory of Child Development and Disorders, China; Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, China.

Seizure
|December 13, 2025
PubMed
概括

肌细胞增强因子2C (MEF2C) 致病变体和5q14.3微切除导致神经发育障碍. 点突变与发育回归和自闭症特征有关,而副本数变异 (CNVs) 与耐火性有关.

关键词:
5q14.3 微删除综合征是一种病.在MEF2C中,MEF2C是突变突变是一种突变.

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