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Article

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.

Human molecular genetics - 15 Sept 2014

Ambrosini Elena, Sicca Federico, Brignone Maria S, D'Adamo Maria C, Napolitano Carlo, Servettini Ilenio, Moro Francesca, Ruan Yanfei, Guglielmi Luca, Pieroni Stefania, Servillo Giuseppe, Lanciotti Angela, Valvo Giulia, Catacuzzeno Luigi, Franciolini Fabio, Molinari Paola, Marchese Maria, Grottesi Alessandro, Guerrini Renzo, Santorelli Filippo M, Priori Silvia, Pessia Mauro

Abstract excerpt

Short QT3 syndrome (SQT3S) is a cardiac disorder characterized by a high risk of mortality and associated with mutations in Kir2.1 (KCNJ2) channels. The molecular mechanisms leading to channel dysfunction, cardiac rhythm disturbances and neurodevelopmental disorders, potentially associated with S...

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Source

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Identifiers

PMID: 24794859
DOI: 10.1093/hmg/ddu201
PMCID: PMC4140467

Genes

KCNJ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24794859-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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