Article
Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem Cells.
International journal of molecular sciences - 31 May 2023
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
Abstract excerpt
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 chan...
Topics
- Humans
- Brugada Syndrome
- Myocytes, Cardiac
- NAV1.5 Voltage-Gated Sodium Channel
- Mutation
- Pluripotent Stem Cells