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Article

Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease.

The Journal of pediatrics - 1 Nov 2014

Baskar Shankar, Ackerman Michael J, Clements Diane, Mayuga Kenneth A, Aziz Peter F

Abstract excerpt

An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill. Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination.

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Source

Identifiers

PMID: 25171853
DOI: 10.1016/j.jpeds.2014.07.036

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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