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

Article ID	Journal	Published Year	Pages	File Type
5961368	Heart Rhythm	2013	9 Pages	PDF

Abstract

Our results add further support to the hypothesis that Nav1.5 subunits interact among them before trafficking toward the membrane and suggest that a missense mutation can “rescue” the defective gating produced by another missense mutation.

Keywords

CCD BRS SIDS LQT3 long QT syndrome type 3 SCN5A gene ECG electrocardiogram Cho cardiac conduction disease Compound heterozygous mutation Chinese hamster ovary cells Brugada syndrome Sudden Infant Death Syndrome wild-type

Related Topics

Health Sciences Medicine and Dentistry Cardiology and Cardiovascular Medicine

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

Authors

LucÃa BPharm, PhD, Adriana BSci, Irene BPharm, Marta González BPharm, Pablo BSci, Ricardo BPharm, PhD, Isabel BSci, PhD, Ignacio MD, Lorenzo MD, PhD, Eva BPharm, PhD, Ricardo BPharm, PhD, Alfonso MD, PhD, Juan MD, PhD, FESC,