Article
Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.
Genes - 22 Dec 2021
Villarreal-Molina Teresa, García-Ordóñez Gabriela Paola, Reyes-Quintero Álvaro E, Domínguez-Pérez Mayra, Jacobo-Albavera Leonor, Nava Santiago, Carnevale Alessandra, Medeiros-Domingo Argelia, Iturralde Pedro
Abstract excerpt
Sodium voltage-gated channel α subunit 5 (SCN5A)-mutations may cause an array of arrhythmogenic syndromes most frequently as an autosomal dominant trait, with incomplete penetrance, variable expressivity and male predominance. In the present study, we retrospectively describe a group of Mexican patients with SCN5A-disease causing variants in whom the onset of symptoms occurred in the pediatric age range. The...
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