Results 41 to 50 of about 798 (112)

A Novel KCNJ2 Mutation Identified in an Autistic Proband Affects the Single Channel Properties of Kir2.1

Frontiers in Cellular Neuroscience, 2018
Inwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel have been reported in cases affected by Andersen-Tawil syndrome while gain-
Anna Binda, Ilaria Rivolta, Chiara Villa, Elisa Chisci, Massimiliano Beghi, Cesare M. Cornaggia, Roberto Giovannoni, Romina Combi   +7 more
doaj   +1 more source

Development of new Kir2.1 channel openers from propafenone analogues

British Journal of Pharmacology, Volume 182, Issue 3, Page 633-650, February 2025.
Background and Purposes Reduced inward rectifier potassium channel (Kir2.1) functioning is associated with heart failure and may cause Andersen‐Tawil Syndrome, among others characterized by ventricular arrhythmias. Most heart failure or Andersen–Tawil Syndrome patients are treated with β‐adrenoceptor antagonists (β‐blockers) or sodium channel blockers;
Encan Li, Najla Boujeddaine, Marien J. C. Houtman, Renee G. C. Maas, Joost P. G. Sluijter, Gerhard F. Ecker, Anna Stary‐Weinzinger, Willem B. van Ham, Marcel A. G. van der Heyden   +8 more
wiley   +1 more source

Can flecainide totally eliminate bidirectional ventricular tachycardia in pediatric patients with Andersen-Tawil syndrome?

Türk Kardiyoloji Derneği Arşivi, 2018
Andersen-Tawil syndrome (ATS) is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm, and developmental abnormalities.
Yakup Ergül, Senem Özgür, Sertaç Hanedan Onan, Volkan Tuzcu   +3 more
doaj   +1 more source

Hypokalemic Paralysis Is Not Always Periodic: A Case Series

Case Reports in Medicine, Volume 2025, Issue 1, 2025.
Potassium is vital for cellular function, particularly in excitable tissues like nerves and muscles, which rely on potassium gradients to function normally. Hypokalemia can lead to severe issues such as muscle weakness and irregular heart rhythms. This case series presents four instances of hypokalemic paralysis, a neuromuscular condition that can be ...
Mohak Jain, Gaurav Mehta, Ajay Parmar, Minal Shastri, Sahaj Patel, Vidhi Gandhi, Shifa Karatela, Apurva Patel, Poulami Jha   +8 more
wiley   +1 more source

A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature

Italian Journal of Pediatrics, 2022
Background Hypokalemic periodic paralysis is a rare neuromuscular genetic disorder due to defect of ion channels and subsequent function impairment. It belongs to a periodic paralyses group including hyperkalemic periodic paralysis (HEKPP), hypokalemic ...
Maria Carolina Colucci, Marica Fabiana Triolo, Simona Petrucci, Flaminia Pugnaloni, Massimiliano Corsino, Melania Evangelisti, Maria Cecilia D’Asdia, Giovanni Di Nardo, Matteo Garibaldi, Gianluca Terrin, Pasquale Parisi   +10 more
doaj   +1 more source

Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen‐Tawil syndrome

The FASEB Journal, Volume 38, Issue 21, 15 November 2024.
In this work, we were able to identify the molecular mechanisms by which two ATS‐causing mutations (C154Y and R312H) affect the function of these channels. Both mutants impair the channel function, even though they can bind to the lipid activator PIP2. Notably, they hinder the channel function by different mechanisms. Our data support that C154Y exerts
Dania Zuniga, Andreas Zoumpoulakis, Rafael F. Veloso, Laurie Peverini, Sophie Shi, Alexandre Pozza, Valérie Kugler, Françoise Bonneté, Tahar Bouceba, Renaud Wagner, Pierre‐Jean Corringer, Carlos A. H. Fernandes, Catherine Vénien‐Bryan   +12 more
wiley   +1 more source

Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases

MedComm, Volume 5, Issue 7, July 2024.
The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng, Zhi‐Nan Chen, Huijie Bian   +2 more
wiley   +1 more source

Tpeak‐Tend ECG Marker in Obesity and Cardiovascular Diseases: A Comprehensive Review

Scientifica, Volume 2024, Issue 1, 2024.
Globally, cardiovascular diseases are still the leading cause of death. Numerous methods are used to diagnose cardiovascular pathologies; there is still a place for straightforward and noninvasive techniques, such as electrocardiogram (ECG). Depolarization and repolarization parameters, including QT interval and its derivatives, are well studied ...
Irena Dykiert, Kamila Florek, Krzysztof Kraik, Paweł Gać, Rafał Poręba, Małgorzata Poręba, Remo Melchio   +6 more
wiley   +1 more source

Nova mutacija kanalčka KCNJ2 pri bolnici s sindromom Andersen-Tawil

Zdravniški Vestnik, 2013
Andersen-Tawil syndrome (ATS) is a rare inherited or sporadic disorder characterized by ventricular arrhythmias, characteristic QT-U wave patterns in electrocardiogram, periodic paralysis, and dysmorphic features.
Matjaž Šinkovec, Andrej Pernat, Matevž Jan, Bor Antolič, Jernej Kovač, Katarina Trebušak Podkrajšek, Maruša Debeljak   +6 more
doaj  

Bidirectional Ventricular Tachycardia: Challenges and Solutions

Vascular Health and Risk Management, 2022
Ahmed Almarzuqi,1 Shane Kimber,1 Kenneth Quadros,1 Janek Senaratne1,2 1Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, University of Alberta, Edmonton, Canada; 2Department of Critical Care Medicine, University of ...
Almarzuqi A, Kimber S, Quadros K, Senaratne J   +3 more
doaj