Results 11 to 20 of about 2,451 (126)

Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism [PDF]

Journal of Translational Medicine
Background Mutations in the neuronal Na+/K+-ATPase subunit ATP1A3 are linked to a spectrum of neurological disorders, including rapid-onset dystonia-parkinsonism (RDP), yet their pathogenic mechanisms remain incompletely understood.
Su Min Lim, Suhyun Kim, Jinseok Park, Young-Eun Kim, Ok Cho Na, Minyeop Nahm, Min-Young Noh, Ki-Wook Oh, Chang-Seok Ki, Woong-Hee Shin, Hae-Chul Park, Seung Hyun Kim   +11 more
doaj   +2 more sources

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies [PDF]

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +2 more sources

Cell Type‐Specific Extracellular Vesicles in Mouse Brain: Proteomic Signatures Highlight Astrocytic GlialCAM Network and GPCR Enrichment [PDF]

Glia, Volume 74, Issue 10, October 2026.
Cell type–specific EVs were isolated from mouse brain and profiled by proteomics. Each EV subtype exhibited proteomic signatures consistent with the specialized functions of its cell of origin. Astrocyte‐derived EVs (ADEVs) were enriched for the GlialCAM/MLC1 network and GPCRs.
Alba M. Lucart‐Sanchez, Edward Sellés‐Climent, Jorge Navarro‐Calvo, Guillem Pont‐Espinós, Jose A. Gomez‐Sanchez, Raúl Estévez, Luis M. Valor, Rocío Pérez‐González   +7 more
wiley   +2 more sources

Movement Disorders in Developmental and Epileptic Encephalopathies [PDF]

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +2 more sources

RHOBTB2-Associated Neurological Phenotypes and Underlying Mechanisms: Alternating Hemiplegia of Childhood Beyond ATP1A3 [PDF]

Diseases
Alternating hemiplegia of childhood (AHC) represents a severe and complex pediatric neurodevelopmental disorder, predominantly characterized by the occurrence of paroxysmal episodes of transient unilateral or bilateral paresis prior to 18 months of age ...
Ruzica Kravljanac, Kristel Klaassen, Vladimir Oparnica, Biljana Vucetic Tadic, Marina Andjelkovic, Anita Skakic, Sara Stankovic, Maja Stojiljkovic   +7 more
doaj   +2 more sources

Paroxysmal Kinesigenic Dyskinesia and Progressive Ataxia‐Spasticity Syndrome Caused by a Biallelic Variant in KCNJ10 [PDF]

Mov Disord Clin Pract
Movement Disorders Clinical Practice, EarlyView.
Clément Desjardins, Jiyoon Baik, Lorenzo Bresciani, Christelle Nilles, Cendrine Foucard, Mathieu Georget, Lina Daghsen, Bertrand Degos, Aurélie Méneret, Emmanuel Roze   +9 more
wiley   +2 more sources

D801N in ATP1A3-encoded Na/K-ATPase alpha 3 causes cardiac arrhythmogenesis through sodium-calcium exchanger–mediated calcium overload [PDF]

JCI Insight
Short QT syndrome is a heritable arrhythmia disorder linked to sudden cardiac death. We recently identified that individuals with alternating hemiplegia of childhood (AHC), a rare neurodevelopmental disorder, can exhibit shortened corrected QT intervals ...
Minu-Tshyeto K. Bidzimou, Padmapriya Muralidharan, Zhushan Zhang, Danyal Raza, Daniel Needs, Bo Sun, Robin M. Perelli, Mary E. Moya-Mendez, P.K. Rakesh Manivannan, Arsen S. Hunanyan, Abbigail Helfer, Christine Q. Simmons, Alfred L. George Jr., Donald M. Bers, Nenad Bursac, Mohamad A. Mikati, Andrew P. Landstrom   +16 more
doaj   +2 more sources

Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice [PDF]

Neurobiology of Disease
Pathogenic variants in the neuronal Na+/K+ ATPase transmembrane ion transporter (ATP1A3) cause a spectrum of neurological disorders including alternating hemiplegia of childhood (AHC). The most common de novo pathogenic variants in AHC are p.D801N (∼40 %
Markus Terrey, Georgii Krivoshein, Scott I. Adamson, Elena Arystarkhova, Laura Anderson, John Szwec, Shelby McKee, Holly Jones, Sara Perkins, Vijay Selvam, Pierre-Alexandre Piec, Dweet Chhaya, Ari Dehn, Aamir Zuberi, Stephen A. Murray, Natalia S. Morsci, Kathleen J. Sweadner, David A. Knowles, Else A. Tolner, Arn M.J.M. van den Maagdenberg, Cathleen M. Lutz   +20 more
doaj   +2 more sources

Caenorhabditis elegans models of alternating hemiplegia of childhood have dominant neuromuscular junction defects [PDF]

Disease Models & Mechanisms
Diana A. Wall, Adam M. Friedberg, Jeremy Lins, Roza Khalifa, Sienna Partipillo, Anne C. Hart   +5 more
doaj   +2 more sources

Mogrol Regulates the Expression of ATPase Na+/K+ Transport Subunit 3, Inhibits Cardiomyocyte Apoptosis, and Plays a Protective Role Against Myocardial Infarction [PDF]

Drug Design, Development and Therapy
Feng Wang, Jinling Zhou, Weiwei Liu, Wei Wang, Boyan Tian, Jinyu Liu, Han Zhang, Peina He, Xiaoyun Yang, Li Yang, Yueheng Wang Echocardiology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, 050000, People’s Republic of ...
Wang F, Zhou J, Liu W, Wang W, Tian B, Liu J, Zhang H, He P, Yang X, Yang L, Wang Y   +10 more
doaj   +2 more sources