In vivo Dominant-Negative Effect of an SCN5A Brugada Syndrome Variant
Loss-of-function mutations in the cardiac Na+ channel α-subunit Nav1.5, encoded by SCN5A, cause Brugada syndrome (BrS), a hereditary disease characterized by sudden cardiac death due to ventricular fibrillation. We previously evidenced in vitro the dominant-negative effect of the BrS Nav1.5-R104W va...
Main Authors: | Nicolas Doisne, Marta Grauso, Nathalie Mougenot, Michel Clergue, Charlotte Souil, Alain Coulombe, Pascale Guicheney, Nathalie Neyroud |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2021-05-01
|
Series: | Frontiers in Physiology |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fphys.2021.661413/full |
Similar Items
-
Inter-Regulation of K<sub>v</sub>4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies
by: Jérôme Clatot, et al.
Published: (2020-07-01) -
Meta-Analysis of Risk Stratification of SCN5A With Brugada Syndrome: Is SCN5A Always a Marker of Low Risk?
by: Yihan Yang, et al.
Published: (2019-02-01) -
Functional Characterization of Two Novel Mutations in <i>SCN5A</i> Associated with Brugada Syndrome Identified in Italian Patients
by: Cristina Balla, et al.
Published: (2021-06-01) -
Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan
by: Jyh-Ming Jimmy Juang, et al.
Published: (2015-07-01) -
Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene
by: Anders Krogh Broendberg, MD, et al.
Published: (2016-05-01)