Dan Ye

TL;DR: These findings provide the first molecular and functional evidence implicating novel KCND3 gain-of-function mutations in the pathogenesis and phenotypic expression of BrS, with the potential for a lethal arrhythmia being precipitated by a genetically enhanced I(to) current gradient within the right ventricle whereKCND3 expression is the highest.

TL;DR: In this article, the authors present three genes, CALM1, CalM2, and CALM3, all of which harbor pathogenic variants linked to long QT syndrome (LQTS) with early and severe expressivity.

TL;DR: A large case/control study is used to identify regions of Nav1.5 associated with a high probability of pathogenicity, and the synergistic use of multiple in silico tools may help promote or demote a variant’s pathogenic status.

TL;DR: Electrophysiologic experiments combined with modeling studies have identified a novel TS mechanism through increased window current, and expanded genetic testing in cases of TS to the entire CACNA1C coding region, if initial targeted testing is negative, may be warranted.

TL;DR: Electrophysiological studies, identification of mutations at the same amino acid position in multiple pedigree, and cosegregation with disease in these pedigrees provide evidence that p.Arg518Cys/His is the pathogenic substrate for the observed phenotype.