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Article

Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis

19 Feb 2025

Abstract excerpt

encoding a cardiac potassium channel predispose to sudden cardiac death in type 1 congenital long QT syndrome (LQT1). To determine the spectrum of molecular mechanisms responsible for this life-threatening condition, we used an integrative approach to determine the biophysical, functional, and trafficking properties of 61 KCNQ1 variants distributed throughout all domains of the channel. Impaired trafficking to...

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Share to Cardiac electrophysiology and arrhythmias
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PMID: 39969993
DOI: 10.1073/pnas.2412971122

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