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Updated: May 20, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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在患有神经发育障碍的患者中新发现的CACNA1C致病变体的功能性表征

Robin N Stringer1, Xuechen Tang2, Bohumila Jurkovicova-Tarabova3,4

  • 1Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic.

Molecular brain
|March 26, 2025
PubMed
概括

一种新的CACNA1C基因变异 (L658P) 在儿童中引起严重的神经问题,包括和发育迟缓. 这种通道突变破坏了通道功能,扩大了已知的相关疾病的范围.

关键词:
这就是CACNA1C.通道中的.在Cav1.2和Cav1.2之间.道病变是一种通道病变.电力生理学 电力生理学L658P 这是一个很好的方法.

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