Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death.

doi:10.1016/j.hrthm.2004.07.001

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Article

Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death.

Heart rhythm - 1 Nov 2004

Rossenbacker Tom, Carroll Sheila J, Liu Huajun, Kuipéri Cuno, de Ravel Thomy J L, Devriendt Koen, Carmeliet Peter, Kass Robert S, Heidbüchel Hein

Abstract excerpt

OBJECTIVES: The purpose of this study was to determine the clinical and biophysical characteristics of a novel SCN5A mutation. BACKGROUND: Brugada syndrome and isolated cardiac conduction defect have been linked to SCN5A mutations. METHODS: Eleven members of a western European family underwent el...

Topics

Adolescent
Adult
Atrial Flutter
Bundle-Branch Block
DNA Mutational Analysis
Electrocardiography
Female
Heart Conduction System
Heterozygote
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

NAV1.5 Voltage-Gated Sodium Channel

Phenotype

Sodium Channels

Syndrome

Ventricular Fibrillation

Source

Open in PubMed

Identifiers

PMID: 15851228
DOI: 10.1016/j.hrthm.2004.07.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-15851228-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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