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Updated: Sep 12, 2025

Author Spotlight: Advancing Genetic Epilepsy Studies with Multi-Electrode Array-Based Long-Term Electrophysiological Monitoring of Human Brain Assembloids
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机器学习解决了KCNQ2发育性脑病的功能表现型和治疗反应 iPSC模型

Dina Simkin, Syed M A Wafa, Mennat Gharib

    bioRxiv : the preprint server for biology
    |August 6, 2025
    PubMed
    概括

    致病性KCNQ2变体通过增强SK通道导致KCNQ2发育性和性脑病变 (KCNQ2-DEE). 在iPSC衍生神经元上的机器学习揭示了不规则的激发和爆发作为生物标志物,而 retigabine 显示了可变的疗效.

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