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The novel SCN5A-P1891A mutation is associated with left ventricular hypertrabeculation and links Na <sub>v</sub> 1.5 to cardiomyocyte proliferation and disrupted 3D cardiac tissue formation

2025-02-24

Abstract excerpt

<h4>Background</h4> Left ventricular hypertrabeculation (LVHT) is a heterogenous cardiac condition with a complex and poorly understood aetiology. We comprehensively characterised the effect of a novel P1891A mutation in the SCN5A gene, which encodes the voltage-gated sodium channel Na v 1.5, identified in a Finnish family diagnosed with LVHT. <h4>Methods</h4> We generated SCN5A- P1891A mutation-carrying hum...

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Literature Corpus work
38c63926-0ea2-5042-908b-7e72019738eb
DOI
10.1101/2025.02.19.639199
Open publication

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The novel SCN5A-P1891A mutation is associated with left ventricular hypertrabeculation and links Na <sub>v</sub> 1.5 to cardiomyocyte proliferation and disrupted 3D cardiac tissue formationDOI 10.1101/2025.02.19.639199
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