延迟刺激恢复和神经发育途径的下调有助于KCNQ2相关疾病的表型差异

Yingying Wang1,2, Min Liu2,3, Ning Hua2

  • 1Department of Pediatrics, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Epilepsia
|October 6, 2025
PubMed
概括

致病性KCNQ2基因变异导致新生儿. 这项研究揭示了轻度 (SeLNE) 和严重 (DEE) 结果背后的独特分子机制,突出了KCNQ2-DEE干预措施的时间有限的刺激性变化和发育窗口.

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