Spectrum and Prevalence of <i>CALM1</i> -, <i>CALM2</i> -, and <i>CALM3</i> -Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141G

Abstract excerpt

BACKGROUND: Calmodulin (CaM) is encoded by 3 genes, CALM1, CALM2, and CALM3, all of which harbor pathogenic variants linked to long QT syndrome (LQTS) with early and severe expressivity. These LQTS-causative variants reduce CaM affinity to Ca(2+) and alter the properties of the cardiac L-type calcium channel (CaV1.2). CaM also modulates NaV1.5 and the ryanodine receptor, RyR2. All these interactions may play a...

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• Calcium signaling and nucleotide metabolism
• Cardiac electrophysiology and arrhythmias
• Ion Channels and Receptors