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Article

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.

Basic research in cardiology - 1 May 2013

Limberg Maren M, Zumhagen Sven, Netter Michael F, Coffey Alison J, Grace Andrew, Rogers Jane, Böckelmann Doris, Rinné Susanne, Stallmeyer Birgit, Decher Niels, Schulze-Bahr Eric

Abstract excerpt

Andersen-Tawil syndrome (ATS) is characterized by dysmorphic features, periodic paralyses and abnormal ventricular repolarization. After genotyping a large set of patients with congenital long-QT syndrome, we identified two novel, heterozygous KCNJ2 mutations (p.N318S, p.W322C) located in the C-terminus of the Kir2.1 subunit. These mutations have a different localization than classical ATS mutations which are...

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Source

Identifiers

PMID: 23644778
DOI: 10.1007/s00395-013-0353-1

Genes

KCNJ2

Variants

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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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Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.PMID 23644778Read ↗

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