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Updated: Sep 14, 2025

Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy
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Simultaneous Video-EEG-ECG Monitoring to Identify Neurocardiac Dysfunction in Mouse Models of Epilepsy

Published on: January 29, 2018

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一个患有的男孩的长期呼吸暂停和一种新的功能获取错误CACNA1A变异,表明SUDEP风险

Simone Pelizzari1, Marta Campiglio1, Yousra El Ghaleb1

  • 1Department of Physiology and Medical Physics, Innsbruck Medical University, Innsbruck, Austria.

Frontiers in neurology
|July 24, 2025
PubMed
概括

在CACNA1A基因的致病变体可以导致严重的神经系统疾病,包括和. 在患有发育迟缓,和呼吸暂停的儿童中发现了一种新的CACNA1A变异,突显了中突然意外死亡 (SUDEP) 的风险.

关键词:
在 CaV2.1 中.P/Q类型的通道.大脑干扩散脱极化预防策略 预防策略状态 性 的状态

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