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Article

Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.

International journal of molecular sciences - 10 Jan 2023

Rinné Susanne, Oertli Annemarie, Nagel Claudia, Tomsits Philipp, Jenewein Tina, Kääb Stefan, Kauferstein Silke, Loewe Axel, Beckmann Britt Maria, Decher Niels

Abstract excerpt

The KCNQ1 gene encodes the α-subunit of the cardiac voltage-gated potassium (Kv) channel KCNQ1, also denoted as Kv7.1 or KvLQT1. The channel assembles with the ß-subunit KCNE1, also known as minK, to generate the slowly activating cardiac delayed rectifier current IKs, a key regulator of the heart rate dependent adaptation of the cardiac action potential duration (APD). Loss-of-function variants in KCNQ1 cause...

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Identifiers

PMID: 36674868
DOI: 10.3390/ijms24021350
PMCID: PMC9865342

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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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