Molecular stratification of arrhythmogenic mechanisms in the Andersen Tawil syndrome
AI Moreno-Manuel, LK Gutiérrez… - Cardiovascular …, 2023 - academic.oup.com
Andersen-Tawil syndrome (ATS) is a rare inheritable disease associated with loss-of-
function mutations in KCNJ2, the gene coding the strong inward rectifier potassium channel …
function mutations in KCNJ2, the gene coding the strong inward rectifier potassium channel …
Muscle channelopathies
V Vivekanandam, D Jayaseelan, MG Hanna - Handbook of clinical …, 2023 - Elsevier
Muscle channelopathies encompass a wide range of mainly episodic conditions that are
characterized by muscle stiffness and weakness. The myotonic conditions, characterized …
characterized by muscle stiffness and weakness. The myotonic conditions, characterized …
Andersen–Tawil syndrome: deep phenotyping reveals significant cardiac and neuromuscular morbidity
V Vivekanandam, R Männikkö, I Skorupinska… - Brain, 2022 - academic.oup.com
Andersen–Tawil syndrome is a neurological channelopathy caused by mutations in the
KCNJ2 gene that encodes the ubiquitously expressed Kir2. 1 potassium channel. The …
KCNJ2 gene that encodes the ubiquitously expressed Kir2. 1 potassium channel. The …
Cardiac conduction diseases: understanding the molecular mechanisms to uncover targets for future treatments
Introduction The cardiac conduction system (CCS) is crucial for maintaining adequate
cardiac frequency at rest and modulation during exercise. Furthermore, the atrioventricular …
cardiac frequency at rest and modulation during exercise. Furthermore, the atrioventricular …