Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome

JC Hancox, CY Du, A Butler… - … of the Royal …, 2023 - royalsocietypublishing.org
The congenital short QT syndrome (SQTS) is a rare condition characterized by abbreviated
rate-corrected QT (QTc) intervals on the electrocardiogram and by increased susceptibility to …

Precision Medicine and Cardiac Channelopathies: Human iPSCs Take the Lead

SA Sebastian, V Panthangi, Y Sethi, I Padda… - Current problems in …, 2023 - Elsevier
Sudden cardiac death (SCD) is one of the leading causes of death worldwide, usually
involving young people. SCD remains a critical public health problem accounting for …

[HTML][HTML] A rational approach to drug repositioning in β-thalassemia: Induction of fetal hemoglobin by established drugs

M Prosdocimi, C Zuccato, LC Cosenza… - Wellcome Open …, 2022 - ncbi.nlm.nih.gov
Drug repositioning and the relevance of orphan drug designation for β-thalassemia is
reviewed. Drug repositioning and similar terms ('drug repurposing','drug reprofiling','drug …

[Retracted] Online Automatic Diagnosis System of Cardiac Arrhythmias Based on MIT‐BIH ECG Database

W Yan, Z Zhang - Journal of Healthcare Engineering, 2021 - Wiley Online Library
Arrhythmias are a relatively common type of cardiovascular disease. Most cardiovascular
diseases are often accompanied by arrhythmias. In clinical practice, an electrocardiogram …

[HTML][HTML] Potential theranostic roles of SLC4 molecules in human diseases

J Zhong, J Dong, W Ruan, X Duan - International Journal of Molecular …, 2023 - mdpi.com
The solute carrier family 4 (SLC4) is an important protein responsible for the transport of
various ions across the cell membrane and mediating diverse physiological functions, such …

[HTML][HTML] Clinical genetics of inherited arrhythmogenic disease in the pediatric population

E Martínez-Barrios, S Cesar, J Cruzalegui… - Biomedicines, 2022 - mdpi.com
Sudden death is a rare event in the pediatric population but with a social shock due to its
presentation as the first symptom in previously healthy children. Comprehensive autopsy in …

[HTML][HTML] Primary Electrical Heart Disease—Principles of Pathophysiology and Genetics

K Badura, D Buławska, B Dąbek, A Witkowska… - International Journal of …, 2024 - mdpi.com
Primary electrical heart diseases, often considered channelopathies, are inherited genetic
abnormalities of cardiomyocyte electrical behavior carrying the risk of malignant arrhythmias …

Preclinical short QT syndrome models: Studying the phenotype and drug-screening

X Fan, G Yang, J Kowitz, F Duru, AM Saguner… - EP …, 2022 - academic.oup.com
Cardiovascular diseases are the main cause of sudden cardiac death (SCD) in developed
and developing countries. Inherited cardiac channelopathies are linked to 5–10% of SCDs …

[HTML][HTML] Application of next generation sequencing in cardiology: current and future precision medicine implications

E Papadopoulou, D Bouzarelou, G Tsaousis… - Frontiers in …, 2023 - frontiersin.org
Inherited cardiovascular diseases are highly heterogeneous conditions with multiple genetic
loci involved. The application of advanced molecular tools, such as Next Generation …

Critical appraisal of cenobamate as adjunctive treatment of focal seizures in adults

G Zaccara, S Lattanzi, A Leo… - … Disease and Treatment, 2021 - Taylor & Francis
Cenobamate (CNB) is the latest antiseizure medication (ASM) authorized for the treatment of
focal-onset seizures in adults. Although the precise mechanism of action of CNB is not yet …