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Article

Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation.

Heart rhythm - 1 Jul 2012

Park Ji Kwon, Martin Lisa J, Zhang Xue, Jegga Anil G, Benson D Woodrow

Abstract excerpt

BACKGROUND: Heterozygous SCN5A mutations have been associated with varied arrhythmia phenotypes; phenotype severity may range from asymptomatic electrocardiographic changes (mild phenotype) to symptomatic arrhythmias resulting in syncope, cardiac arrest, and sudden cardiac death (severe phenotype...

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Share to Arrhythmias, Cardiac
Share to Death, Sudden, Cardiac
Share to DNA Fingerprinting

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Genetic Linkage

Share to Linkage Disequilibrium

Share to NAV1.5 Voltage-Gated Sodium Channel

Share to Promoter Regions, Genetic

Source

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Identifiers

PMID: 22370247
DOI: 10.1016/j.hrthm.2012.02.023
PMCID: PMC3375373

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22370247-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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