Article

Likely Pathogenicity of Uncharacterized KCNQ1 and KCNE1 Variants

2025-06-03

Abstract excerpt

<h4>Background: </h4> Voltage-gated potassium channels Kv7.1 encoded by gene KCNQ1 play critical roles in various physiological processes. In cardiomyocytes, complex Kv7.1-KCNE1 mediates the slow component of delayed rectifier potassium current that is essential for the action potential repolarization. Over 1,000 KCNQ1 missense variants, many of which are associated with long QT syndrome, are reported in ClinVar a...

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Literature Corpus work: 34428774-2749-540f-acfe-a468a8e2a644
DOI: 10.20944/preprints202506.0195.v1

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