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Article

Calmodulinopathy variants impair CaV1.3 and CaV2.1 regulation.

The Journal of general physiology - 4 May 2026

Hussey John W, DeMarco Emily, DiSilvestre Deborah, Brohus Malene, Busuioc Ana-Octavia, Iversen Emil D, Jensen Helene H, Nyegaard Mette, Overgaard Michael T, Ben-Johny Manu, Dick Ivy E

Abstract excerpt

Calmodulinopathies are caused by mutations in calmodulin (CaM) and result in debilitating cardiac arrythmias such as long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). In addition, many patients exhibit neurological comorbidities, including developmental delay and autism spectrum disorder. Prior studies have identified the impairment of Ca2+/CaM-dependent inactivation (CDI)...

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Identifiers

PMID: 42030101
DOI: 10.1085/jgp.202413734

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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