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Article

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

Circulation research - 15 Apr 2005

Priori Silvia G, Pandit Sandeep V, Rivolta Ilaria, Berenfeld Omer, Ronchetti Elena, Dhamoon Amit, Napolitano Carlo, Anumonwo Justus, di Barletta Marina Raffaele, Gudapakkam Smitha, Bosi Giuliano, Stramba-Badiale Marco, Jalife José

Abstract excerpt

Short QT syndrome (SQTS) leads to an abbreviated QTc interval and predisposes patients to life-threatening arrhythmias. To date, two forms of the disease have been identified: SQT1, caused by a gain of function substitution in the HERG (I(Kr)) channel, and SQT2, caused by a gain of function substitution in the KvLQT1 (I(Ks)) channel. Here we identify a new variant, "SQT3", which has a unique ECG phenotype...

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Identifiers

PMID: 15761194
DOI: 10.1161/01.RES.0000162101.76263.8c

Genes

KCNJ2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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