Article

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk

2025-12-16

Abstract excerpt

Loss-of-function variants in KCNQ1 are the primary cause of congenital Long QT Syndrome (LQTS), characterized by QT prolongation and increased risk of fatal arrhythmias. The surge in genetic testing continues to uncover vast numbers of variants of uncertain significance in Mendelian disease genes, including KCNQ1. Using four multiplexed assays, we mapped the functional landscape of KCNQ1, identifying trafficking,...

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Literature Corpus work: e79cd8e9-d731-5f76-af03-c92580fe547f
DOI: 10.64898/2025.12.15.25341924

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