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Núñez L, Barana A, Amorós I, de la Fuente MG, Dolz-Gaitón P, Gómez R, Rodríguez-García I, Mosquera I, Monserrat L, Delpón E, Caballero R, Castro-Beiras A, Tamargo J

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

Heart Rhythm. 2013 Feb;10(2):264-72, PMID: 23085483

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.

CARDIAC & CARDIOVASCULAR SYSTEMS

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