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Updated: Feb 22, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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単一のSCN1Aコドンのに関連した変種は,異なる機能特性を示す

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
まとめ

SCN1A変種はを引き起こすが,その機能を予測するのは難しい. 同じコドンにおける変種でさえ,異なる効果を持つことができ,その位置を示すだけでは,病原性を予測するのに不十分です.

キーワード:
電気生理学 電気生理学エピレプシー エピレプシーニューロゲネティクス 神経遺伝学ナトリウムチャネルナトリウムチャネル

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