Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome

T Ishikawa, H Kimoto, H Mishima… - European heart …, 2021 - academic.oup.com
Aims The prognostic value of genetic variants for predicting lethal arrhythmic events (LAEs)
in Brugada syndrome (BrS) remains controversial. We investigated whether the functional …

Morpho-functional comparison of differentiation protocols to create iPSC-derived cardiomyocytes

A Nijak, E Simons, B Vandendriessche… - Biology …, 2022 - journals.biologists.com
Cardiomyocytes derived from induced pluripotent stem cells (iPSC-CMs) offer an attractive
platform for cardiovascular research. Patient-specific iPSC-CMs are very useful for studying …

Mutations in SCN10A Are Responsible for a Large Fraction of Cases of Brugada Syndrome

D Hu, H Barajas-Martínez, R Pfeiffer, F Dezi… - Journal of the American …, 2014 - jacc.org
Background: BrS is an inherited sudden cardiac death syndrome. Less than 35% of BrS
probands have genetically identified pathogenic variants. Recent evidence has implicated …

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort

TT Koopmann, L Beekman, M Alders, PG Meregalli… - Heart Rhythm, 2007 - Elsevier
BACKGROUND: The Brugada syndrome is an inherited cardiac electrical disorder
associated with a high incidence of life-threatening arrhythmias. Screening for mutations in …

[HTML][HTML] Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes

A Tarantino, G Ciconte, A Ghiroldi… - International Journal of …, 2023 - mdpi.com
Brugada Syndrome (BrS) is a genetic heart condition linked to sudden cardiac death.
Though the SCN5A gene is primarily associated with BrS, there is a lack of comprehensive …

SCN5A mutation status increases the risk of major arrhythmic events in Asian populations with Brugada syndrome: systematic review and meta‐analysis

P Rattanawong, J Chenbhanich… - Annals of …, 2019 - Wiley Online Library
Abstract Background Brugada syndrome (BrS) is an inherited arrhythmic disease linked to
SCN5A mutations. It is controversial whether SCN5A mutation carriers possess a greater …

[HTML][HTML] Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene

MM Monasky, E Micaglio, G Ciconte… - Frontiers in …, 2019 - frontiersin.org
Brugada syndrome (BrS) is a known cause of sudden cardiac death. The genetic basis of
BrS is not well understood, and no one single gene is linked to even a majority of BrS cases …

Multiple arrhythmic and cardiomyopathic phenotypes associated with an SCN5A A735E mutation

T Sasaki, K Ikeda, T Nakajima… - Journal of …, 2021 - Elsevier
Background SCN5A mutations are associated with multiple arrhythmic and cardiomyopathic
phenotypes including Brugada syndrome (BrS), sinus node dysfunction (SND) …

Copy number variations of SCN5A in Brugada syndrome

K Sonoda, S Ohno, J Ozawa, M Hayano, T Hattori… - Heart Rhythm, 2018 - Elsevier
Background Loss-of-function mutations in SCN5A are associated in∼ 20% of Brugada
syndrome (BrS) patients. Copy number variations (CNVs) have been shown to be …

Dual Variation in SCN5A and CACNB2b Underlies the Development of Cardiac Conduction Disease without Brugada Syndrome

D Hu, H BARAJAS‐MARTINEZ… - Pacing and clinical …, 2010 - Wiley Online Library
Background: Inherited loss of function mutations in SCN5A have been linked to overlapping
syndromes including cardiac conduction disease and Brugada syndrome (BrS). The …