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Article

Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis.

Neuroscience - 27 Mar 2017

Paninka Rolf Matias, Carlos-Lima Estevão, Lindsey Susan C, Kunii Ilda S, Dias-da-Silva Magnus R, Arcisio-Miranda Manoel

Abstract excerpt

Inward rectifying potassium - Kir - channels drive the resting potential to potassium reversal potential and, when disrupted, might be related to muscular diseases. Recently, Thyrotoxic Periodic Paralysis (TPP) has emerged as a channelopathy related to mutations in KCNJ18 gene, which encodes Kir2.6 channel. TPP is a neuromuscular disorder characterized by a triad of muscle weakness, hypokalemia, and...

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Source

Identifiers

PMID: 28131627
DOI: 10.1016/j.neuroscience.2017.01.019

Genes

KCNJ18

Provenance

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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