Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Standing genetic variation affects phenotypic heterogeneity in an SCN5A-mutation founder population with excess sudden cardiac death.

Heart rhythm - 1 May 2023

Isaacs Aaron, Barysenka Andrei, Ter Bekke Rachel M A, Helderman-van den Enden Apollonia T J M, van den Wijngaard Arthur, Volders Paul G A, Stoll Monika

Abstract excerpt

BACKGROUND: The Worm Study, ascertained from a multigeneration pedigree segregating a single amino acid deletion in SCN5A (c.4850_4852delTCT, p.(Phe1617del), rs749697698), is characterized by substantial phenotypic heterogeneity and overlap of sudden cardiac death, long-QT syndrome, cardiac conduction disease, Brugada syndrome, and isorhythmic atrioventricular dissociation. Linkage analysis for a synthetic trait...

Topics

Join the communities discussing this publication.

Brugada Syndrome
Death, Sudden, Cardiac
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

NAV1.5 Voltage-Gated Sodium Channel

Source

Identifiers

PMID: 36764349
DOI: 10.1016/j.hrthm.2023.02.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Standing genetic variation affects phenotypic heterogeneity in an SCN5A-mutation founder population with excess sudden cardiac death.PMID 36764349Read ↗

Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death.Semantic proximity Read ↗

High‐resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profileSemantic proximity Read ↗

Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.Semantic proximity Read ↗

Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk.Semantic proximity Read ↗

Systematic analysis of SCN5A variants associated with inherited cardiac diseases.Semantic proximity Read ↗

Isoform-Resolved Genetic Architecture of Epilepsy and SUDEP Reveals Divergent Brain and Heart Channelopathy SignaturesSemantic proximity Read ↗

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.Semantic proximity Read ↗

Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.Semantic proximity Read ↗

Modeling incomplete penetrance in long QT syndrome type 3 through ion channel heterogeneity: an in silico population study.Semantic proximity Read ↗

Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants.Semantic proximity Read ↗

GSTM3 variant is a novel genetic modifier in Brugada syndrome, a disease with risk of sudden cardiac death.Semantic proximity Read ↗

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.