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Article

Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death.

Circulation - 24 Jan 2012

Van Norstrand David W, Asimaki Angeliki, Rubinos Clio, Dolmatova Elena, Srinivas Miduturu, Tester David J, Saffitz Jeffrey E, Duffy Heather S, Ackerman Michael J

Abstract excerpt

BACKGROUND: An estimated 10% to 15% of sudden infant death syndrome (SIDS) cases may stem from channelopathy-mediated lethal arrhythmias. Loss of the GJA1-encoded gap junction channel protein connexin43 is known to underlie formation of lethal arrhythmias. GJA1 mutations have been associated with cardiac diseases, including atrial fibrillation. Therefore, GJA1 is a plausible candidate gene for premature sudden...

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Source

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Identifiers

PMID: 22179534
DOI: 10.1161/CIRCULATIONAHA.111.057224
PMCID: PMC3332541

Genes

GJA1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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