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

doi:10.1016/j.hrthm.2012.10.025

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Article

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...

Topics

Animals
Brugada Syndrome
Cells, Cultured
Cricetinae
DNA, Complementary
Disease Models, Animal
Female
Genetic Predisposition to Disease
HEK293 Cells
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Ion Channel Gating

Mutation, Missense

NAV1.5 Voltage-Gated Sodium Channel

Patch-Clamp Techniques

Sensitivity and Specificity

Source

Open in PubMed

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-23085483-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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