Results 81 to 90 of about 9,035 (197)

Phenotypic Variability of Andersen–Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene—A New Family Case Report

Biomolecules
Andersen–Tawil syndrome (ATS) is a multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, prolonged QT interval, and facial dysmorphisms occurring in the first/second decade of life.
Maria Elena Onore, Esther Picillo, Paola D’Ambrosio, Salvatore Morra, Vincenzo Nigro, Luisa Politano   +5 more
doaj   +1 more source

Targeting the noncatalytic activity of GSK3β modulates neuronal excitability in medium spiny neurons via Nav1.6 interactions

British Journal of Pharmacology, Volume 183, Issue 15, Page 4344-4363, August 2026.
Abstract Background and Purpose Kinases phosphorylate ion channels, but their noncatalytic roles via protein–protein interactions (PPI) are less understood. Here, we identified the peptidomimetic ZL141 to characterize the PPI between GSK3β and Nav1.6, revealing a noncatalytic role for GSK3β in regulating Nav1.6 currents and neuronal excitability ...
Aditya K. Singh, Zahra Haghighijoo, Akanksha Gurtu, Nolan M. Dvorak, Timothy J. Baumgartner, Nana A. Goode, Jully Singh, Matteo Bernabucci, Adam T. Szafran, Michael J. Bolt, Michael A. Mancini, Natalie M. Dvorak, Marijn Lijffijt, Zhiqing Liu, Yu Xue, Alyssa K. Thomas, Alejandro Villasante‐Tezanos, Balaji Krishnan, Jia Zhou, Fernanda Laezza   +19 more
wiley   +1 more source

Understanding CPVT pathogenic mechanisms based on mutation location within RyR2: towards personalized medicine?

The Journal of Physiology, EarlyView.
Jean‐Pierre Benitah, Esther Zorio, Ana María Gómez   +2 more
wiley   +1 more source

Management of Spontaneous Coronary Dissection Complicated by Cardiogenic Shock: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Spontaneous coronary artery dissection (SCAD) is a rare cause of acute coronary syndrome with debated optimal treatment in the setting of cardiogenic shock (CS). We report a case of a middle‐aged woman presenting with out‐of‐hospital cardiac arrest due to extensive multivessel SCAD.
Daniel Grüter, Thomas Seiler, Chiara Schaffner, Adrian Attinger, Florim Cuculi, Matthias Bossard   +5 more
wiley   +1 more source

Pleiotropic Effects of the NSAID Fenamates on Chloride Channels: Opportunity for Ion Channelopathies?

Pharmacology Research & Perspectives
Chloride channels are involved in many cellular processes, including cell volume regulation, modulation of cell excitability, and electrolyte and water secretion.
Paola Laghetti, Ilaria Saltarella, Simone Dell'Atti, Jean‐François Desaphy, Concetta Altamura   +4 more
doaj   +1 more source

Channels and channelopathies [PDF]

Acta Physiologica, 2016
P B, Persson, A, Bondke Persson
openaire   +2 more sources

A Case of Brugada Syndrome… or Something Else? Behind Type 1 Brugada Pattern

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Although Brugada syndrome has traditionally been considered a primary electrical disease, accumulating evidence supports the presence of subtle structural abnormalities, particularly involving the right ventricular outflow tract. Nevertheless, the identification of overt myocardial scar and biventricular arrhythmogenic substrate should prompt ...
Antonio Scarà, Alessio Borrelli, Silvio Romano, Luigi Sciarra   +3 more
wiley   +1 more source

Epilepsy: Epidemiology, Molecular Pathogenesis, and Clinical Management

MedComm, Volume 7, Issue 7, July 2026.
Epilepsy is a heterogeneous and chronically evolving brain network disorder. This review integrates epidemiological burden, psychiatric comorbidities, and cyclic seizure patterns with multiscale pathogenic mechanisms, including ion‐channel dysfunction, synaptic transmission defects, neuroinflammation, metabolic and mitochondrial dysfunction, and ...
Jian Liu, Xinyan Wu, Ting Yin, Feining Huang, Manqi Kong, Yu Yang, Zinan Liu, Jiabin Yu, Tianpeng Zhang   +8 more
wiley   +1 more source

Congenital Short QT Syndrome

Indian Pacing and Electrophysiology Journal, 2010
The Short QT Syndrome is a recently described new genetic disorder, characterized by abnormally short QT interval, paroxysmal atrial fibrillation and life threatening ventricular arrhythmias. This autosomal dominant syndrome can afflict infants, children,
Lia Crotti, Erika Taravelli, Giulia Girardengo, Peter J. Schwartz   +3 more
doaj  

Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
We have identified 4 pathogenic/likely pathogenic changes and 2 variants of uncertain significance, 3 of which were novel. The identification of disease‐causing variants in the CRYAA, MYH9, RP2, and CLNC1 genes allowed us to establish an accurate genetic diagnosis of inherited cataract and to describe overlapping clinical phenotypes.
Kristiyana Vitanova, Kunka Kamenarova, Nevyana Veleva‐Krasteva, Kalina Mihova, Yoanna Kaneva, Reni Tzveova, Martin Georgiev, Delyan Georgiev, Ivanka Dimova, Alexander Oscar, Radka Kaneva   +10 more
wiley   +1 more source