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Article

Digenic Heterozigosity in SCN5A and CACNA1C Explains the Variable Expressivity of the Long QT Phenotype in a Spanish Family.

Revista espanola de cardiologia (English ed.) - 1 Apr 2019

Nieto-Marín Paloma, Jiménez-Jáimez Juan, Tinaquero David, Alfayate Silvia, Utrilla Raquel G, Rodríguez Vázquez Del Rey María Del Mar, Perin Francesca, Sarquella-Brugada Geòrgia, Monserrat Lorenzo, Brugada Josep, Tercedor Luis, Tamargo Juan, Delpón Eva, Caballero Ricardo

Abstract excerpt

INTRODUCTION AND OBJECTIVES: A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval. In the other 3 relatives, a novel missense mutation in Cav1.2 cardiac channels was found (p.S1961N). Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the...

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Identifiers

PMID: 29691127
DOI: 10.1016/j.rec.2018.03.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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