Article

A rare gain of function HCN4 gene mutation is responsible for inappropriate sinus tachycardia in a Spanish family

2023-01-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> In a family with inappropriate sinus tachycardia (IST) we identified a novel 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 the family and functionally analyze the p.V240M variant. <h4>Methods</h4> Macroscopic (I HCN4...

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Literature Corpus work: 28862850-85cd-55c2-a5b5-b2966cf6c52b
DOI: 10.1101/2023.01.20.23284606

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