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Article

Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

Heart rhythm - 1 Aug 2009

Medeiros-Domingo Argelia, Tan Bi-Hua, Iturralde-Torres Pedro, Tester David J, Tusié-Luna Teresa, Makielski Jonathan C, Ackerman Michael J

Abstract excerpt

BACKGROUND: Functional characterization of mutations involving the SCN5A-encoded cardiac sodium channel has established the pathogenic mechanisms for type 3 long QT syndrome and type 1 Brugada syndrome and has provided key insights into the physiological importance of essential structure-function...

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Source

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Identifiers

PMID: 19632629
DOI: 10.1016/j.hrthm.2009.04.034
PMCID: PMC3073365

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19632629-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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