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Updated: Feb 22, 2026

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单个SCN1A的相关变体表现出不同的功能性质

Lanie N Liebovitz1, Christopher H Thompson1, Linda C Laux2

  • 1Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

Annals of clinical and translational neurology
|February 20, 2026
PubMed
概括

SCN1A变种会引起,但很难预测它们的功能. 即使是同一个编码子的变异也会产生不同的效果,仅仅显示位置是不够的,无法预测病原性.

关键词:
电力生理学 电力生理学是一种.神经遗传学 神经遗传学通道中的.

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