[HTML][HTML] Identification of novel SCN5A single nucleotide variants in Brugada syndrome: A territory-wide study from Hong Kong
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 …
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 …
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 …
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 …
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
Rhythm disturbances are life-threatening cardiovascular diseases, accounting for many
deaths annually worldwide. Abnormal electrical activity might arise in a structurally normal …
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 …
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
Background: Brugada syndrome (BrS) is a rare cardiac arrhythmia characterized by sudden
death associated with electrocardiogram patterns characterized by incomplete right bundle …
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
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 …
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 …
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 …
branch block and dynamic ST-segment changes in precordial leads V1–V3. In patients with …