Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4

Kazuki Segawa,Masahiro Nishiyama,Itsuki Mori,Tomoya Kubota,Masanori P Takahashi

Brain and Development（2023）

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摘要

V792G in SCN4A is a pathogenic variant associated with the HyperPP phenotype and the inner pore lesion of Nav1.4 plays a crucial role in slow inactivation.

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关键词

Hyperkalemic periodic paralysis,SCN4A,Slow inactivation,Gain-of-function

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