[HTML][HTML] Identification of novel SCN5A single nucleotide variants in Brugada syndrome: A territory-wide study from Hong Kong

G Tse, S Lee, T Liu, HC Yuen, ICK Wong… - Frontiers in …, 2020 - frontiersin.org
Background The aim of this study is to report on the genetic composition of Brugada
syndrome (BrS) patients undergoing genetic testing in Hong Kong. Methods Patients with …

Human model of IRX5 mutations reveals key role for this transcription factor in ventricular conduction

ZR Al Sayed, R Canac, B Cimarosti… - Cardiovascular …, 2021 - academic.oup.com
Aims Several inherited arrhythmic diseases have been linked to single gene mutations in
cardiac ion channels and interacting proteins. However, the mechanisms underlying most …

[HTML][HTML] A Novel DLG1 Variant in a Family with Brugada Syndrome: Clinical Characteristics and In Silico Analysis

M d'Apolito, F Santoro, R Santacroce, G Cordisco… - Genes, 2023 - mdpi.com
Background: Brugada syndrome (BrS) is an inherited primary channelopathy syndrome
associated to sudden cardiac death. Overall, variants have been identified in eighteen …

Modeling genetic cardiac channelopathies using induced pluripotent stem cells–Status quo from an electrophysiological perspective

MVK Kamga, M Reppel, J Hescheler… - Biochemical …, 2021 - Elsevier
Abstract Long QT syndrome (LQTS), Brugada syndrome (BrS), and catecholaminergic
polymorphic ventricular tachycardia (CPVT) are genetic diseases of the heart caused by …

[HTML][HTML] Inherited and acquired rhythm disturbances in sick sinus syndrome, Brugada syndrome, and atrial fibrillation: Lessons from preclinical modeling

L Iop, S Iliceto, G Civieri, F Tona - Cells, 2021 - mdpi.com
Rhythm disturbances are life-threatening cardiovascular diseases, accounting for many
deaths annually worldwide. Abnormal electrical activity might arise in a structurally normal …

Loss of sodium current caused by a Brugada syndrome–associated variant is determined by patient-specific genetic background

R Martínez-Moreno, D Carreras, G Sarquella-Brugada… - Heart Rhythm, 2024 - Elsevier
Abstract Background Brugada syndrome (BrS) is an inherited cardiac arrhythmogenic
disease that predisposes patients to sudden cardiac death. It is associated with mutations in …

Novel and heteroplasmic mutations in mitochondrial tRNA genes in Brugada syndrome

MF Tafti, M Khatami, S Rezaei, MM Heidari… - Cardiology …, 2018 - journals.viamedica.pl
Background: Brugada syndrome (BrS) is a rare cardiac arrhythmia characterized by sudden
death associated with electrocardiogram patterns characterized by incomplete right bundle …

[HTML][HTML] Functional studies and in silico analyses to evaluate non-coding variants in inherited cardiomyopathies

G Frisso, N Detta, P Coppola, C Mazzaccara… - International Journal of …, 2016 - mdpi.com
Point mutations are the most common cause of inherited diseases. Bioinformatics tools can
help to predict the pathogenicity of mutations found during genetic screening, but they may …

[HTML][HTML] Pathogenesis and drug response of iPSC-derived cardiomyocytes from two Brugada syndrome patients with different Nav1. 5-subunit mutations

Y Zhu, L Wang, C Cui, H Qin, H Chen… - Journal of Biomedical …, 2021 - ncbi.nlm.nih.gov
Brugada syndrome (BrS) is a complex genetic cardiac ion channel disease that causes a
high predisposition to sudden cardiac death. Considering that its heterogeneity in clinical …

[HTML][HTML] Electrical storm in a patient with Brugada syndrome and coronavirus disease 2019

SH Ali, KR Nilsson - The Journal of Innovations in Cardiac Rhythm …, 2022 - ncbi.nlm.nih.gov
Brugada syndrome (BrS) is an inherited arrhythmia syndrome characterized by right bundle
branch block and dynamic ST-segment changes in precordial leads V1–V3. In patients with …