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Article

Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.

Genes - 22 Mar 2022

Zaklyazminskaya Elena, Polyak Margarita, Shestak Anna, Sadekova Mariam, Komoliatova Vera, Kiseleva Irina, Makarov Leonid, Podolyak Dmitriy, Glukhov Grigory, Zhang Han, Abramochkin Denis, Sokolova Olga S

Abstract excerpt

BACKGROUND: The KCNJ2 gene encodes inward rectifier Kir2.1 channels, maintaining resting potential and cell excitability. Presumably, clinical phenotypes of mutation carriers correlate with ion permeability defects. Loss-of-function mutations lead to QTc prolongation with variable dysmorphic features, whereas gain-of-function mutations cause short QT syndrome and/or atrial fibrillation. METHODS: We screened 210...

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Identifiers

PMID: 35456365
DOI: 10.3390/genes13040559
PMCID: PMC9025978

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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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