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Article

The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.

European journal of human genetics : EJHG - 1 Jan 2014

Veeramah Krishna R, Karafet Tatiana M, Wolf Daniel, Samson Ricardo A, Hammer Michael F

Abstract excerpt

J-wave syndromes have been associated with increased risk of ventricular fibrillation and sudden cardiac death. Previous studies have identified the KCNJ8-S422L variant in heterozygous form in individuals with J-wave syndromes. Its absence in over 1500 controls, coupled with in vitro analysis, have led to the conclusion that S422L is pathogenic. We previously performed whole-genome sequencing in a family quartet...

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Source

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Identifiers

PMID: 23632791
DOI: 10.1038/ejhg.2013.78
PMCID: PMC3865407

Genes

KCNJ8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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