Novel SCN5A p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths

Genetic testing in Brugada syndrome (BrS) is still not considered to be useful for clinical management of patients in the majority of cases, due to the current lack of understanding about the effect of specific variants. Additionally, family history of sudden death is generally not considered useful...

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Detalles Bibliográficos
Autores principales: Monasky, Michelle M., Micaglio, Emanuele, Ciconte, Giuseppe, Rivolta, Ilaria, Borrelli, Valeria, Ghiroldi, Andrea, D’Imperio, Sara, Binda, Anna, Melgari, Dario, Benedetti, Sara, Mitrovic, Predrag, Anastasia, Luigi, Mecarocci, Valerio, Ćalović, Žarko, Casari, Giorgio, Pappone, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8125150/
https://www.ncbi.nlm.nih.gov/pubmed/33946750
http://dx.doi.org/10.3390/ijms22094700

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8125150/
https://www.ncbi.nlm.nih.gov/pubmed/33946750
http://dx.doi.org/10.3390/ijms22094700

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