Article
Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.
International journal of molecular sciences - 15 Jan 2026
Martínez-Barrios Estefanía, Cruzalegui José, Hidalgo-Sanuy Maria, Greco Andrea, Cesar Sergi, Chipa Fredy, Díez-Escuté Nuria, Cerralbo Patricia, Zschaeck Irene, Merchán Fernanda, Mejia Sol Balcells, Brugada Josep, Campuzano Oscar, Sarquella-Brugada Georgia
Abstract excerpt
Deleterious variants in SCN5A lead to a wide clinical spectrum that includes pathologies characterized by life-threatening cardiac events (CEs). In the pediatric population, early identification, management, and risk stratification of these pathologies are the main current challenges. This study analyzed a Spanish pediatric cohort (≤18 years) carrying rare SCN5A variants to explore genotype-phenotype...
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