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Article

Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance.

Brain & development - 1 Mar 2021

Hiraide Takuya, Fukumura Shinobu, Yamamoto Akiyo, Nakashima Mitsuko, Saitsu Hirotomo

Abstract excerpt

BACKGROUND: The periodic paralyses are a group of skeletal muscle channelopathies caused by variants in several ion channel genes. Potassium Inwardly Rectifying Channel Subfamily J Member 5 (KCNJ5) encodes the G-protein-activated inwardly rectifying potassium channel 4 (Kir3.4) and the heterozygous KCNJ5 variants cause familial hyperaldosteronism and long QT syndrome (LQTS). Recent studies suggested that variants...

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PMID: 33199157
DOI: 10.1016/j.braindev.2020.10.010

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