Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells

Brugada syndrome (BrS) is an inherited autosomal dominant cardiac channelopathy. Pathogenic rare mutations in the SCN5A gene, encoding the alpha-subunit of the voltage-dependent cardiac Na(+) channel protein (Nav1.5), are identified in 20% of BrS patients, affecting the correct function of the chann...

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Detalles Bibliográficos
Autores principales: Salvarani, Nicolò, Peretto, Giovanni, Silvia, Crasto, Villatore, Andrea, Thairi, Cecilia, Santoni, Anna, Galli, Camilla, Carrera, Paola, Sala, Simone, Benedetti, Sara, Di Pasquale, Elisa, Di Resta, Chiara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10253753/
https://www.ncbi.nlm.nih.gov/pubmed/37298497
http://dx.doi.org/10.3390/ijms24119548

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