Brugada Syndrome Associated with Different Heterozygous <i>SCN5A</i> Variants in Two Unrelated Families

Brugada Syndrome Associated with Different Heterozygous <i>SCN5A</i> Variants in Two Unrelated Families

The cardiac sodium channel (Nav1.5) controls cardiac excitability by triggering the action potential of cardiac myocytes and controlling electric impulse transmission. However, it has also been associated with arrhythmogenic cardiomyopathies. Accordingly, genetic variants in <i>SCN5A</i>...

Full description

Bibliographic Details
Main Authors:	Nadine Molitor, Argelia Medeiros-Domingo, Siv Fokstuen, Frank Ruschitzka, Firat Duru, Ardan Saguner
Format:	Article
Language:	English
Published:	MDPI AG 2022-09-01
Series:	Journal of Clinical Medicine
Subjects:	Brugada syndrome channelopathy <i>SCN5A</i> arrhythmogenic right ventricular cardiomyopathy overlapping syndrome
Online Access:	https://www.mdpi.com/2077-0383/11/19/5625

Similar Items

Characterization of the novel heterozygous SCN5A genetic variant Y739D associated with Brugada syndrome
by: Anastasia K. Zaytseva, et al.
Published: (2022-07-01)

Brugada Syndrome: More than a Monogenic Channelopathy
by: Antonella Liantonio, et al.
Published: (2023-08-01)

Clinical Spectrum of <i>SCN5A</i> Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts
by: Teresa Villarreal-Molina, et al.
Published: (2021-12-01)

Diagnostic yield and variant reassessment in the genes encoding Nav1.5 channel in Russian patients with Brugada syndrome
by: Elena Zaklyazminskaya, et al.
Published: (2022-08-01)

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)

Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report
by: Aleksandra Nijak, et al.
Published: (2020-07-01)

Sex‐Dependent Phenotypic Variability of an SCN5A Mutation: Brugada Syndrome and Sick Sinus Syndrome
by: Yoshiyasu Aizawa, et al.
Published: (2018-09-01)

Novel <i>SCN5A</i> p.V1429M Variant Segregation in a Family with Brugada Syndrome
by: Michelle M. Monasky, et al.
Published: (2020-08-01)

Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan
by: Jyh-Ming Jimmy Juang, et al.
Published: (2015-07-01)

Unravelling Novel <i>SCN5A</i> Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights
by: Anthony Frosio, et al.
Published: (2023-10-01)

Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect
by: Christian Veltmann, et al.
Published: (2016-07-01)

Brugada syndrome and calcium channel mutation in a patient with congenital deaf mutism
by: Uğur Canpolat, et al.
Published: (2017-01-01)

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)

Characterization of N-terminally mutated cardiac Na+ channels associated with long QT syndrome 3 and Brugada syndrome
by: Christian eGütter, et al.
Published: (2013-06-01)

In silico validation revealed the role of SCN5A mutations and their genotype–phenotype correlations in Brugada syndrome
by: Hung Manh Pham, et al.
Published: (2023-12-01)

Effect of Flecainide on Multifocal Ectopic Purkinje-Related Premature Contractions in an R814W SCN5A Carrier
by: Hisham Ahamed, MD, DM, et al.
Published: (2024-03-01)

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)

H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters
by: Hiroya Matsumura, et al.
Published: (2017-12-01)

Novel <i>SCN5A</i> p.Val1667Asp Missense Variant Segregation and Characterization in a Family with Severe Brugada Syndrome and Multiple Sudden Deaths
by: Michelle M. Monasky, et al.
Published: (2021-04-01)

Genetic Profile and Clinical Characteristics of Brugada Syndrome in the Chinese Population
by: Lin-Lin Wang, et al.
Published: (2022-10-01)

Brugada syndrome with a novel missense mutation in SCN5A gene: A case report from Bangladesh
by: Md. Zahidus Sayeed, et al.
Published: (2014-01-01)

“Pill-in-the-Pocket” Treatment of Propafenone Unmasks ECG Brugada Pattern in an Atrial Fibrillation Patient With a Common SCN5A R1193Q Polymorphism
by: Linling Li, et al.
Published: (2019-03-01)

Reduced current density, partially rescued by mexiletine, and depolarizing shift in activation of SCN5A W374G channels as a cause of severe form of Brugada syndrome
by: Tadashi Nakajima, et al.
Published: (2021-05-01)

Patient-specific iPSC-derived cardiomyocytes reveal aberrant activation of Wnt/β-catenin signaling in SCN5A-related Brugada syndrome
by: Dongsheng Cai, et al.
Published: (2023-09-01)

SCN5A gene mutations and the risk of ventricular fibrillation and syncope in Brugada syndrome patients: A meta‐analysis
by: Sunu Budhi Raharjo, et al.
Published: (2018-10-01)

De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome
by: Lumin Wang, et al.
Published: (2015-07-01)

Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype
by: Emanuele Micaglio, et al.
Published: (2019-06-01)

Brugada Syndrome: From Molecular Mechanisms and Genetics to Risk Stratification
by: Irene Paula Popa, et al.
Published: (2023-02-01)

Compound heterozygous SCN5A gene mutations in asymptomatic Brugada syndrome child
by: Elena Sommariva, et al.
Published: (2012-09-01)

Studying Brugada Syndrome With an SCN1B Variants in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes
by: Ibrahim El-Battrawy, et al.
Published: (2019-11-01)

Concise compilation of the most clinically relevant current knowledge on Brugada Syndrome
by: Philip Kłakowicz, et al.
Published: (2023-05-01)

Arrhythmogenic Right Ventricular Cardiomyopathy and Differential Diagnosis with Diseases Mimicking Its Phenotypes
by: Nadine Molitor, et al.
Published: (2022-02-01)

A Novel Heterozygous Desmoplakin Variant Causes Cardiocutaneous Syndrome with Arrhythmogenic Cardiomyopathy and Palmoplantar Keratosis
by: Tolga Çimen, et al.
Published: (2023-01-01)

An overlap of Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy/dysplasia
by: Shohei Kataoka, MD, et al.
Published: (2016-02-01)

Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong
by: Gary Tse, et al.
Published: (2020-09-01)

Identification of a novel Scn3b mutation in a Chinese Brugada syndrome pedigree: implications for Nav1.5 electrophysiological properties and intracellular distribution of Nav1.5 and Navβ3
by: Jun Fan, et al.
Published: (2024-02-01)

Patient-specific iPSC-derived cardiomyocytes reveal variable phenotypic severity of Brugada syndromeResearch in context
by: Yaxun Sun, et al.
Published: (2023-09-01)

Case Report: Comprehensive evaluation of ECG phenotypes and genotypes in a family with Brugada syndrome carrying SCN5A-R376H
by: Ngoc Bao Ly, et al.
Published: (2024-03-01)

Inaccurate diagnosis of Brugada syndrome in a healthy woman based on SCN5A mutation classification
by: Simrit K. Warring, MS, et al.
Published: (2017-10-01)

Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated <i>PKP2</i> Mutation
by: Simone Persampieri, et al.
Published: (2020-05-01)