Article
Systematic analysis of SCN5A variants associated with inherited cardiac diseases.
Heart rhythm - 1 Mar 2025
Hermida Alexis, Jedraszak Guillaume, Ader Flavie, Denjoy Isabelle, Fressart Véronique, Maury Phillipe, Beyls Christophe, Bloch Adrien, Clerici Gaël, Daire Elise, Defaye Pascal, Dupin-Deguine Delphine, Garçon Loic, Klug Didier, Ginglinger Emmanuelle, Hermida Jean-Sylvain, Jesel Laurence, Khraiche Diala, Kubala Maciej, Lacotte Jérôme, Laredo Mikael, Leenhardt Antoine, Le Guillou Xavier, Lesaffre Francois, Maltret Alice, Magnin-Poull Isabelle, Marijon Eloi, Nambot Sophie, Neyroud Nathalie, Ninni Sandro, Palmyre Aurélien, Pasquie Jean Luc, Proukhnitzky Julie, Reant Patricia, Richard Pascale, Rollin Anne, Rooryck Caroline, Sacher Frédéric, Schaefer Elise, Vernier Agathe, Winum Pierre-François, Wahbi Karim, Waintraub Xavier, Waldmann Victor, Weber Sacha, Zouaghi Amir, Charron Philippe, Extramiana Fabrice, Gandjbakhch Estelle
Abstract excerpt
BACKGROUND: SCN5A variants are associated with a spectrum of cardiac electrical disorders with clear phenotypes. However, they may also be associated with complex phenotypic traits like overlap syndromes or pleiotropy, which have not been systematically described. In addition, the involvement of SCN5A in dilated cardiomyopathies (DCMs) remains controversial. OBJECTIVE: We aimed to evaluate the different...
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