SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance [Original Articles]

Conclusions: NaV1.5 in vitro electrophysiological parameters are correlated with Brugada syndrome and long QT syndrome disease risk. Our data emphasize the value of in vitro electrophysiological characterization and incorporating counts of affected and unaffected carriers to aid variant classification. This quantitative analysis of the electrophysiological literature should aid the interpretation of NaV1.5 variant electrophysiological abnormalities and help improve NaV1.5 variant classification.
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Arrhythmias, Electrophysiology, Ion Channels/Membrane Transport, Genetics Original Articles Source Type: research