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Article

A gain-of-function HCN4 mutant in the HCN domain is responsible for inappropriate sinus tachycardia in a Spanish family

30 Nov 2023

Abstract excerpt

In a family with inappropriate sinus tachycardia (IST), we identified a mutation (p.V240M) of the hyperpolarization-activated cyclic nucleotide–gated type 4 (HCN4) channel, which contributes to the pacemaker current (I f ) in human sinoatrial node cells. Here, we clinically study fifteen family members and functionally analyze the p.V240M variant. Macroscopic (I HCN4 ) and single-channel currents were recorded...

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Share to Cardiac Arrhythmias and Treatments
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Identifiers

PMID: 38032931
DOI: 10.1073/pnas.2305135120

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