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Article

Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.

Scientific reports - 26 Jun 2018

Luo Sushan, Sampedro Castañeda Marisol, Matthews Emma, Sud Richa, Hanna Michael G, Sun Jian, Song Jie, Lu Jiahong, Qiao Kai, Zhao Chongbo, Männikkö Roope

Abstract excerpt

Dominantly inherited channelopathies of the skeletal muscle voltage-gated sodium channel NaV1.4 include hypokalaemic and hyperkalaemic periodic paralysis (hypoPP and hyperPP) and myotonia. HyperPP and myotonia are caused by NaV1.4 channel overactivity and overlap clinically. Instead, hypoPP is caused by gating pore currents through the voltage sensing domains (VSDs) of NaV1.4 and seldom co-exists clinically with...

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Identifiers

PMID: 29946067
DOI: 10.1038/s41598-018-27822-2
PMCID: PMC6018793

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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