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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Enregistré dans:
Détails bibliographiques
Publié dans:Int J Mol Sci
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: MDPI 2021
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8125150/
https://ncbi.nlm.nih.gov/pubmed/33946750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22094700
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