Results 51 to 60 of about 9,985 (188)

ZBTB18 Dysfunction Promotes Neuropathic Pain via CHD4‐based Epigenetic Disinhibition of CLIC1 Channels in Sensory Neurons

Advanced Science, EarlyView.
In this study, we identify a novel functional role of ZBTB18 in regulating trigeminal‐mediated neuropathic pain. Nerve injury reduces ZBTB18 in trigeminal ganglion neurons, impairing CHD4/NuRD recruitment and de‐repressing Clic1. Elevated CLIC1 enhances chloride channel activity and neuronal hyperexcitability, thereby driving pain.
Shoupeng Wang, Zitong Huang, Yu Tao, Yunmei Zhang, Yufang Sun, Dongsheng Jiang, Weiwei Lu, Fuhai Ji, Gang Chen, Min Xu, Yuan Zhang, Jin Tao   +11 more
wiley   +1 more source

Opsoclonus in Pediatric Patients: Differential Diagnosis and a Practical Approach to Evaluation

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Opsoclonus is an ocular dyskinesia characterized by involuntary, arrhythmic, multidirectional saccades. In pediatrics, opsoclonus is most commonly attributed to the rare neuroinflammatory disorder opsoclonus‐myoclonus‐ataxia syndrome (OMAS), typically considered a paraneoplastic syndrome associated with neural crest tumors. However, opsoclonus
Aubrey C. Reed, Supreet S. Randhawa, Jason H. Peragallo, Prabhumallikarjun Patil, Grace Gombolay, Varun Kannan   +5 more
wiley   +1 more source

Calmodulin Mutations in Human Disease

Channels, 2023
Calcium ions (Ca2+) are the basis of a unique and potent array of cellular responses. Calmodulin (CaM) is a small but vital protein that is able to rapidly transmit information about changes in Ca2+ concentrations to its regulatory targets.
John W. Hussey, Worawan B. Limpitikul, Ivy E. Dick   +2 more
doaj   +1 more source

Association of BMI with adherence and outcome in heart failure patients treated with wearable cardioverter defibrillator

ESC Heart Failure, Volume 12, Issue 2, Page 1295-1303, April 2025.
Abstract Background Obesity is a known risk factor for cardiovascular disease (CVD), yet an ‘obesity paradox’ has been observed in various CVD contexts. The impact of obesity on heart failure (HF) patients treated with a wearable cardioverter‐defibrillator (WCD) remains underexplored.
Mohammad Abumayyaleh, Katharina Koepsel, Julia W. Erath, Thomas Kuntz, Norbert Klein, Boldizsar Kovacs, Firat Duru, Ardan M. Saguner, Christian Blockhaus, Dong‐In Shin, Fabienne Kreimer, Michael Gotzmann, Hendrik Lapp, Thomas Beiert, Assem Aweimer, Andreas Mügge, Christel Weiß, Ibrahim El‐Battrawy, Ibrahim Akin   +18 more
wiley   +1 more source

Compound heterozygous SCN5A mutations in severe sodium channelopathy with Brugada Syndrome : a case report [PDF]

, 2020
: Aims: Brugada syndrome (BrS) is an inherited cardiac arrhythmia with an increased risk for sudden cardiac death (SCD). About 20% of BrS cases are explained by mutations in the SCN5A gene, encoding the main cardiac sodium Nav1.5 channel. Here we present
De Wilde, Hans, Simons, Eline, Nijak, Aleksandra, Alaerts, Maaike, Schepers, Dorien, Labro, Alain, van Craenenbroeck, Emeline, Peigneur, Steve, Snyders, Dirk, Labro, Alain J., Sieliwonczyk, Ewa, Saenen, Johan, Labro, Alain J, Van Laer, Lut, Dewals, Wendy, Tytgat, Jan, Loeys, Bart   +16 more
core   +1 more source

Scn1a‐mediated developmental regulation of prefrontal cortex plasticity and cognition

Epilepsia, EarlyView.
Abstract Objective The voltage‐gated sodium channel Nav1.1, encoded by Scn1a, is essential for γ‐aminobutyric acid (GABA)ergic function, and its alteration is associated with neurological disorders such as Dravet syndrome and Alzheimer's disease. We previously demonstrated that local Nav1.1 dysfunction in the medial prefrontal cortex (mPFC) during ...
Maurizio S. Riga, Mercedes Pérez‐Fernández, Yuniesky Andrade‐Talavera, Benito Domínguez‐Velasco, Antonio Rodríguez‐Moreno, Manuel Álvarez‐Dolado   +5 more
wiley   +1 more source

Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman, Jennine M. Dawicki‐McKenna, Ian McSalley, Anna J. Prentice, Torrey A. Chisari, Sarah M. Ruggiero, Jillian L. McKee, Alex J. Felix, Giulia Pavani, Benjamin L. Prosser, Michael J. Boland, Ingo Helbig   +11 more
wiley   +1 more source

Kv3.1 activation suppresses provoked and spontaneous seizures in a mouse Dravet syndrome model

Epilepsia, EarlyView.
Abstract Objective γ‐Aminobutyric acidergic (GABAergic) parvalbumin‐positive (PV+) interneurons are critical for maintaining cortical inhibitory tone, with their dysfunction predictably leading to epilepsy. Rapid PV+ interneuron firing is essential for their normal function and is maintained in part by potassium voltage‐gated channels.
Sheryl Anne D. Vermudez, Mustafa Q. Hameed, Yongho Choe, Gabrielle E. McGinty, Amanda M. Liebhardt, Rui Lin, Benjamin Hui, Yini Liang, David J. Arce, Henry H. C. Lee, Mustafa Sahin, Alexander Rotenberg   +11 more
wiley   +1 more source

The Function of Ion Channels and Membrane Potential in Red Blood Cells: Toward a Systematic Analysis of the Erythroid Channelome

Frontiers in Physiology, 2022
Erythrocytes represent at least 60% of all cells in the human body. During circulation, they experience a huge variety of physical and chemical stimulations, such as pressure, shear stress, hormones or osmolarity changes.
Marieke von Lindern, Marieke von Lindern, Stéphane Egée, Stéphane Egée, Paola Bianchi, Lars Kaestner, Lars Kaestner   +6 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source