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Copy Number Variants in Cardiac Channelopathies: Still a Missed Part in Routine Arrhythmic Diagnostics

Inherited cardiac channelopathies are major causes of sudden cardiac death (SCD) in young people. Genetic testing is focused on the identification of single-nucleotide variants (SNVs) by Next-Generation Sequencing (NGS). However, genetically elusive cases can carry copy number variants (CNVs), which...

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Principais autores: Maria Gnazzo, Giovanni Parlapiano, Francesca Di Lorenzo, Daniele Perrino, Silvia Genovese, Valentina Lanari, Daniela Righi, Federica Calì, Massimo Stefano Silvetti, Elena Falcone, Alessia Bauleo, Fabrizio Drago, Antonio Novelli, Anwar Baban
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2024-11-01
coleção:Biomolecules
Assuntos:
channelopathies
copy number variants
long QT
Brugada
catecholaminergic polymorphic ventricular tachycardia
Acesso em linha:https://www.mdpi.com/2218-273X/14/11/1450
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