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Article

High-throughput screening identifies a trafficking corrector for long QT syndrome-associated KCNQ1 variants.

JCI insight - 9 Mar 2026

Moster Katherine R Clowes, Vanoye Carlos G, Chang-Gonzalez Ana C, Romaine Ian M, Stefanski Katherine M, Wilkinson Mason C, Bauer Joshua A, Hasaka Thomas P, Days Emily L, Desai Reshma R, Butcher Kathryn R, Sulikowski Gary A, Waterson Alex G, Meiler Jens, Ledwitch Kaitlyn V, George Alfred L, Sanders Charles R

Abstract excerpt

Congenital long QT syndrome (LQTS) promotes risk for life-threatening cardiac arrhythmia and sudden death in children and young adults. Pathogenic variants in the voltage-gated potassium channel KCNQ1 are the most frequently discovered genetic cause. Most LQTS-associated KCNQ1 variants cause loss of function secondary to impaired trafficking of the channel to the plasma membrane. There are currently no...

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Source

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Identifiers

PMID: 41505221
DOI: 10.1172/jci.insight.201297
PMCID: PMC13041670

Genes

KCNQ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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High-throughput screening identifies a trafficking corrector for long QT syndrome-associated KCNQ1 variants.PMID 41505221Read ↗

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