相关实验视频

Updated: Jun 10, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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CCDC22变异导致X相关的焦点和焦点皮质发育不良

Yu-Lei He1, Yi-Chen Ye2, Peng-Yu Wang2

  • 1Department of Neurology, The First Affiliated Hospital & Clinical Neuroscience Institute of Jinan University, Guangzhou, PR China; Department of Neurology, The First People's Hospital of Chenzhou affiliated to the University of South China, The First Affiliated Hospital of Xiangnan University, Chenzhou, PR China; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, PR China.

Seizure
|October 19, 2024
PubMed
概括

CCDC22基因变异与X相关的焦点和焦点皮质发育不良 (FCD) 有关. 这项研究在患有不明原因的患者中发现了有害的CCDC22变体,这表明它在神经发育障碍中起作用.

关键词:
这就是CCDC22基因.焦点皮层发育不良症 焦点皮层发育不良症焦点性 - 焦点性表型变异的表型变化

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