Article

Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in Patient with Brugada Syndrome and Mild QTc Shortening

2023-09-18

Abstract excerpt

Brugada syndrome (BrS) is an inherited disease characterized by right precordial ST-segment elevation on electrocardiograms (ECGs), and a high risk of life-threatening ventricular arrhyth-mia and sudden cardiac death. In BrS patients, except for SCN5A, mutations in other responsible genes are poorly elucidated. We identified a new missense mutation, c.1189C>T (p.R397C), in the KCNH2 gene in asymptomatic male pr...

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Literature Corpus work: 44b2f699-8d2d-5c05-944c-ffeab3b1e4a4
DOI: 10.20944/preprints202309.1085.v1

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