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Article

Infant sudden death: Mutations responsible for impaired Nav1.5 channel trafficking and function.

Pacing and clinical electrophysiology : PACE - 1 Jun 2017

Gando Ivan, Morganstein Jace, Jana Kundan, McDonald Thomas V, Tang Yingying, Coetzee William A

Abstract excerpt

BACKGROUND: Two genetic variants in SCN5A, encoding the Nav1.5 Na+ channel α-subunit, were found in a 5-month-old girl who died suddenly in her sleep. The first variant is a missense mutation, resulting in an amino acid change (Q1832E), which has been described (but not characterized) in a patient with Brugada syndrome. The second is a nonsense mutation that produces a premature stop codon and a C-terminal...

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Identifiers

PMID: 28370132
DOI: 10.1111/pace.13087
PMCID: PMC7325627

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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