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

@article{Nez2013pD1690NNR,
  title={p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.},
  author={Luc{\'i}a Gonz{\'a}lez N{\'u}{\~n}ez and Adriana Barana and I. Ribes Amor{\'o}s and Marta Gonz{\'a}lez de la Fuente and Pablo Dolz-Gait{\'o}n and Ricardo Gomez and Isabel Rodr{\'i}guez-Garc{\'i}a and Ignacio Mosquera and Lorenzo Monserrat and E. Lugagne Delpon and Ricardo Caballero and Alfonso Castro-Beiras and Juan Tamargo},
  journal={Heart rhythm},
  year={2013},
  volume={10 2},
  pages={
          264-72
        }
}
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 putative modulator effects produced by the presence of the polymorphism. METHODS… CONTINUE READING

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