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p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.

Heart rhythm - 1 Feb 2013

Núñez Lucía, Barana Adriana, Amorós Irene, de la Fuente Marta González, Dolz-Gaitón Pablo, Gómez Ricardo, Rodríguez-García Isabel, Mosquera Ignacio, Monserrat Lorenzo, Delpón Eva, Caballero Ricardo, Castro-Beiras Alfonso, Tamargo Juan

Abstract excerpt

BACKGROUND: We identified 2 compound heterozygous mutations (p.D1690N and p.G1748D) in the SCN5A gene encoding cardiac Na(+) channels (Nav1.5) in a proband diagnosed with Brugada syndrome type 1. Furthermore, in the allele encoding the p.D1690N mutation, the p.H558R polymorphism was also detected. OBJECTIVE: The purpose of this study was to analyze the functional properties of the mutated channels as well as the...

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PMID: 23085483
DOI: 10.1016/j.hrthm.2012.10.025

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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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