A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents.

doi:10.1016/j.hrthm.2011.12.006

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Article

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents.

Heart rhythm - 1 May 2012

Hu Dan, Barajas-Martínez Hector, Medeiros-Domingo Argelia, Crotti Lia, Veltmann Christian, Schimpf Rainer, Urrutia Janire, Alday Aintzane, Casis Oscar, Pfeiffer Ryan, Burashnikov Elena, Caceres Gabriel, Tester David J, Wolpert Christian, Borggrefe Martin, Schwartz Peter, Ackerman Michael J, Antzelevitch Charles

Abstract excerpt

BACKGROUND: Cardiac sodium channel β-subunit mutations have been associated with several inherited cardiac arrhythmia syndromes. OBJECTIVE: To identify and characterize variations in SCN1Bb associated with Brugada syndrome (BrS) and sudden infant death syndrome (SIDS). METHODS: All known exons an...

Topics

Adult
Arrhythmias, Cardiac
Blotting, Western
Brugada Syndrome
Electrocardiography
Female
Genetic Predisposition to Disease
Humans
Infant
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Molecular Biology

Mutation

NAV1.5 Voltage-Gated Sodium Channel

Polymorphism, Genetic

Potassium Channels

Sudden Infant Death

Voltage-Gated Sodium Channel beta-1 Subunit

Source

Open in PubMed Open full text

Identifiers

PMID: 22155597
DOI: 10.1016/j.hrthm.2011.12.006
PMCID: PMC3334446

Genes

KCND3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-22155597-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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