Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

<i>KCNJ2</i> mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia

25 Feb 2013

Abstract excerpt

We describe a mutation (E299V) in KCNJ2, the gene that encodes the strong inward rectifier K(+) channel protein (Kir2.1), in an 11-y-old boy. The unique short QT syndrome type-3 phenotype is associated with an extremely abbreviated QT interval (200 ms) on ECG and paroxysmal atrial fibrillation. Genetic screening identified an A896T substitution in a highly conserved region of KCNJ2 that resulted in a de novo...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiac electrophysiology and arrhythmias
Share to Ion channel regulation and function
Share to Receptor Mechanisms and Signaling

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 23440193
DOI: 10.1073/pnas.1218154110

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

<i>KCNJ2</i> mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmiaPMID 23440193Read ↗

The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3.Semantic proximity Read ↗

Atomic-Level Investigation of <i>KCNJ2</i> Mutations Associated with Ventricular Arrhythmic Syndrome PhenotypesSemantic proximity Read ↗

A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.Semantic proximity Read ↗

Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria.Semantic proximity Read ↗

A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents.Semantic proximity Read ↗

Cardiac potassium inward rectifier Kir2: Review of structure, regulation, pharmacology, and arrhythmogenesis.Semantic proximity Read ↗

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

Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.Semantic proximity Read ↗

Proarrhythmia in KCNJ2-linked short QT syndrome: insights from modelling.Semantic proximity Read ↗

Repurposing polyamines to prevent arrhythmias in Short QT Syndrome type 3, a potentially lethal diseaseSemantic proximity Read ↗

Alleviating the Effects of Short QT Syndrome Type 3 by Allele-Specific Suppression of the KCNJ2 Mutant Allele.Semantic proximity Read ↗

Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.