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Article

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes.

Heart rhythm - 1 Oct 2010

Medeiros-Domingo Argelia, Tan Bi-Hua, Crotti Lia, Tester David J, Eckhardt Lee, Cuoretti Alessandra, Kroboth Stacie L, Song Chunhua, Zhou Qing, Kopp Doug, Schwartz Peter J, Makielski Jonathan C, Ackerman Michael J

Abstract excerpt

BACKGROUND: J-wave syndromes have emerged conceptually to encompass the pleiotropic expression of J-point abnormalities including Brugada syndrome (BrS) and early repolarization syndrome (ERS). KCNJ8, which encodes the cardiac K(ATP) Kir6.1 channel, recently has been implicated in ERS following identification of the functionally uncharacterized missense mutation S422L. OBJECTIVE: The purpose of this study was to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 20558321
DOI: 10.1016/j.hrthm.2010.06.016
PMCID: PMC3049900

Genes

KCNJ8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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