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Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for<i>SCN5A</i>-Brugada Syndrome

2025-03-10

Abstract excerpt

<h4>Background</h4> Brugada Syndrome (BrS) is an inherited arrhythmia disorder that causes an elevated risk of sudden cardiac death. Approximately 20% of patients with BrS have rare variants in SCN5A , which encodes the cardiac sodium channel Na V 1.5. Genetic workup of BrS is often complicated by SCN5A variants of uncertain significance (VUS) and/or incomplete penetrance. <h4>Methods</h4> We analyzed all 252 miss...

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Literature Corpus work
d3cb9379-5ccc-54a7-8dd0-d9bddc8d2f1c
DOI
10.1101/2025.03.09.25323605
Open publication

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Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for<i>SCN5A</i>-Brugada SyndromeDOI 10.1101/2025.03.09.25323605
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