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Silvia Castelletti

Researcher at University College London

Publications -  99
Citations -  2353

Silvia Castelletti is an academic researcher from University College London. The author has contributed to research in topics: Medicine & Internal medicine. The author has an hindex of 21, co-authored 71 publications receiving 1510 citations. Previous affiliations of Silvia Castelletti include St Bartholomew's Hospital & University of Pavia.

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SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families

TL;DR: Common genetic variation is associated with variable expressivity of BrS phenotype in SCN5A families, explaining in part incomplete penetrance and genotype-negative phenotype-positive individuals.
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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Julien Barc, +157 more
- 24 Feb 2022 - 
TL;DR: In this paper , a genome-wide association meta-analysis was performed to identify new susceptibility genes for Brugada syndrome, including new susceptibility loci for SCN5A and MAPRE2, encoding the microtubule plus-end binding protein EB2.
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The genetics underlying idiopathic ventricular fibrillation: A special role for catecholaminergic polymorphic ventricular tachycardia?

TL;DR: The results of this study suggest that a subset of patients originally diagnosed with IVF may carry clinically-relevant variants in genes associated with cardiac channelopathies and cardiomyopathies, potentially contributing to the life-threatening arrhythmias of these patients.