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Electrophysiological abnormalities associated with a <i>CACNA1D</i> variant are rescued by AAV6-Cav1.3-C-terminus gene therapy in patient-iPSC-CMs

2025-12-17

Abstract excerpt

Inherited arrhythmia syndromes are caused by genetic variants that alter cardiac ion channel function. We investigated a complex presentation in a pediatric patient with ventricular tachycardia and conduction abnormalities, harboring a de novo CACNA1D (c.3786G>T) variant, and two inherited variants, the SCN5A (c.2618C>G), and a DSP desmosome (c.1582C>G). The CACNA1D variant, which encodes Cav1.3 L-type calcium...

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Literature Corpus work
6806b91b-07f1-5019-9014-d83f1159ae25
DOI
10.64898/2025.12.15.694396
Open publication

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Electrophysiological abnormalities associated with a <i>CACNA1D</i> variant are rescued by AAV6-Cav1.3-C-terminus gene therapy in patient-iPSC-CMsDOI 10.64898/2025.12.15.694396
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