SCN5A channelopathy: arrhythmia, cardiomyopathy, epilepsy and beyond

CA Remme - … Transactions of the Royal Society B, 2023 - royalsocietypublishing.org
Influx of sodium ions through voltage-gated sodium channels in cardiomyocytes is essential
for proper electrical conduction within the heart. Both acquired conditions associated with …

Implantable defibrillators in primary prevention of genetic arrhythmias. A shocking choice?

D Corrado, MS Link, PJ Schwartz - European heart journal, 2022 - academic.oup.com
Many previously unexplained life-threatening ventricular arrhythmias and sudden cardiac
deaths (SCDs) in young individuals are now recognized to be genetic in nature and are …

Pathogenesis and management of Brugada syndrome: recent advances and protocol for umbrella reviews of meta-analyses in major arrhythmic events risk …

HM Aziz, MP Zarzecki, S Garcia-Zamora… - Journal of Clinical …, 2022 - mdpi.com
Brugada syndrome (BrS) is a primary electrical disease associated with life-threatening
arrhythmias. It is estimated to cause at least 20% of sudden cardiac deaths (SCDs) in …

Brugada syndrome: more than a monogenic channelopathy

A Liantonio, M Bertini, A Mele, C Balla, G Dinoi… - Biomedicines, 2023 - mdpi.com
Brugada syndrome (BrS) is an inherited cardiac channelopathy first diagnosed in 1992 but
still considered a challenging disease in terms of diagnosis, arrhythmia risk prediction …

Patient-specific iPSC-derived cardiomyocytes reveal aberrant activation of Wnt/β-catenin signaling in SCN5A-related Brugada syndrome

D Cai, X Wang, Y Sun, H Fan, J Zhou, Z Yang… - Stem Cell Research & …, 2023 - Springer
Background Mutations in the cardiac sodium channel gene SCN5A cause Brugada
syndrome (BrS), an arrhythmic disorder that is a leading cause of sudden death and lacks …

Prediction of the presence of ventricular fibrillation from a Brugada electrocardiogram using artificial intelligence

T Nakamura, T Aiba, W Shimizu, T Furukawa… - Circulation …, 2023 - jstage.jst.go.jp
Background: Brugada syndrome is a potential cause of sudden cardiac death (SCD) and is
characterized by a distinct ECG, but not all patients with A Brugada ECG develop SCD. In …

Noncoding RNAs and Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes in Cardiac Arrhythmic Brugada Syndrome

B Theisen, A Holtz, V Rajagopalan - Cells, 2023 - mdpi.com
Hundreds of thousands of people die each year as a result of sudden cardiac death, and
many are due to heart rhythm disorders. One of the major causes of these arrhythmic events …

Historical perspective and recent progress in cardiac ion channelopathies research and clinical practice in Hong Kong

KSK Leung, H Huang, CT Chung, D Radford… - International Journal of …, 2023 - Springer
Cardiac ion channelopathies encompass a set of inherited or acquired conditions that are
due to dysfunction in ion channels or their associated proteins, typically in the presence of …

The psychological impact of receiving a Brugada syndrome diagnosis

C van der Werf, PG Postema - Europace, 2023 - academic.oup.com
psychological impact of receiving a Brugada syndrome diagnosis | EP Europace | Oxford
Academic Skip to Main Content Advertisement intended for healthcare professionals Oxford …

Unravelling Novel SCN5A Mutations Linked to Brugada Syndrome: Functional, Structural, and Genetic Insights

A Frosio, E Micaglio, I Polsinelli, S Calamaio… - International Journal of …, 2023 - mdpi.com
Brugada Syndrome (BrS) is a rare inherited cardiac arrhythmia causing potentially fatal
ventricular tachycardia or fibrillation, mainly occurring during rest or sleep in young …