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Article

Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.

Muscle & nerve - 1 Dec 2022

Shibano Maki, Kubota Tomoya, Kokubun Norito, Miyaji Yosuke, Kuriki Hiroko, Ito Yuzuru, Hamanoue Haruka, Takahashi Masanori P

Abstract excerpt

INTRODUCTION/AIMS: Mutations in the SCN4A gene encoding a voltage-gated sodium channel (Nav1.4) cause hyperkalemic periodic paralysis (HyperPP) and hypokalemic periodic paralysis (HypoPP). Typically, both HyperPP and HypoPP are considered as monogenic disorders caused by a missense mutation with a large functional effect. However, a few cases with atypical periodic paralysis phenotype have been caused by multiple...

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Identifiers

PMID: 36116128
DOI: 10.1002/mus.27725

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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