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Article

Unexpected impairment of INa underpins reentrant arrhythmias in a knock-in swine model of Timothy syndrome

11 Dec 2023

Abstract excerpt

Abstract Timothy syndrome 1 (TS1) is a multi-organ form of long QT syndrome associated with life-threatening cardiac arrhythmias, the organ-level dynamics of which remain unclear. In this study, we developed and characterized a novel porcine model of TS1 carrying the causative p.Gly406Arg mutation in CACNA1C , known to impair Ca V 1.2 channel inactivation. Our model fully recapitulated the human disease with...

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PMID: 38665938
DOI: 10.1038/s44161-023-00393-w

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