Results 81 to 90 of about 33,337 (262)

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

Annals of Clinical and Translational Neurology, 2019
Focal cortical dysplasia (FCD) causes drug‐resistant epilepsy and is associated with pathogenic variants in mTOR pathway genes. How germline variants cause these focal lesions is unclear, however a germline + somatic “2‐hit” model is hypothesized.
Wei Shern Lee, Sarah E. M. Stephenson, Katherine B. Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A. Mandelstam, Samuel F. Berkovic, Ingrid E. Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J. Lockhart, Richard J. Leventer   +13 more
doaj   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

AI‐Driven Mapping of Seizure Spread Patterns

Annals of Neurology, EarlyView.
Objective The focus of epilepsy research has largely been on seizure onset; however, physicians typically examine the patterns of seizure spread past seizure onset as well. This study aims to align automated seizure analysis with clinical practice, leverage deep learning to standardize seizure annotations that varies among physicians, and understand ...
Andrew Y. Revell, Marc Jaskir, Akash R. Pattnaik, William K. S. Ojemann, Erin Conrad, Nishant Sinha, Brittany H. Scheid, Alfredo Lucas, John M. Bernabei, John Beckerle, Joel M. Stein, Sandhitsu R. Das, Brian Litt, Kathryn A. Davis   +13 more
wiley   +1 more source

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Hematoma Interleukin‐1 Receptor Antagonist Concentrations Predict Long‐Term Outcome in Acute Human Intracerebral Hemorrhage

Annals of Neurology, EarlyView.
Objectives The interleukin (IL)‐1, IL‐6, and C‐reactive protein (CRP) pathway is central to the immune response after intracerebral hemorrhage (ICH). We tested for associations between hematoma and plasma cytokine concentrations and patient outcomes in Minimally Invasive Surgery Plus Rt‐PA for ICH Evacuation Phase III (MISTIE III) participants ...
Adrian R. Parry‐Jones, Blessing Nyakutsikwa, Michael H. Askenase, Matthew Gittins, Mary Newland, Siobhan Crilly, Paul R. Kasher, Yvonne Davidson, Federico Roncaroli, Stuart M. Allan, Lauren H. Sansing, Wendy Ziai, Daniel F. Hanley, INFLAME‐ICH Investigators, Mark Harrigan, David Miller, Judy Huang, Wendy Ziai, Jack Jallo, Fred Rincon, Gaurav Gupta, Igor Rybinnik, Diederik Bulters, Mary Leigh Gelea, Andras Buki, Erzsebet Ezer, Hiren Patel, Adrian Parry‐Jones, Charles Matouk, Kevin Sheth / Lauren Sansing, Ali Zomorodi, Michael James, Pal Barzo, Krisztian Tanczos, Gregory Thompson, Ventatakrishna Rajajee/Aditya Pandey, Peter Nakaji, Shawn E. Wright, Walter Galicich, Thomas Bergman, Andrew Carlson, Huy Tran, Philipp Taussky, Safdar Ansari, Fuat Arikan, Marcelino Baguena, Ronald Reimer, W. David Freeman, Ania Pollack, John Terry, Geza Mezey, Katalin Szabo/Laszlo Csiba, Robert F. James, Steven J. Barrer, Larami MacKenzie   +54 more
wiley   +1 more source

Role of vagus nerve stimulation in epilepsy

Quality in Sport
Introduction and purpose: Epilepsy affects 1% globally, with 2.6 to 6 million cases in Europe. 30-40% of the 50 million epilepsy patients globally don't respond to drugs.
Bożena Kmak
doaj   +1 more source

Idiopathic Intracranial Hypertension Is Characterized by a Distinct Proteomic Profile

Annals of Neurology, EarlyView.
Objectives The pathophysiology of idiopathic intracranial hypertension (IIH) is poorly understood and disease‐specific biomarkers are lacking. We aimed to shed light on IIH pathophysiology and identify disease‐specific biomarkers. Methods This prospective cross‐sectional cohort study included patients with new‐onset IIH and age‐, body mass index‐, and ...
Santosh D. Bhosale, Arkadiusz Nawrocki, Johanne J. Korsbæk, Nadja S. Hansen, Fabian Foettinger, Nik Krajnc, Mathias J. Norvig, Niclas L. Eriksen, Stefan Macher, Berthold Pemp, Connar S.J. Westgate, Christian B. Pedersen, Frantz R. Poulsen, Sune Munthe, Gabriel Bsteh, Martin R. Larsen, Rigmor H. Jensen, Dagmar Beier   +17 more
wiley   +1 more source

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Beyond the Outburst: Charting a New Frontier for Understanding and Treating Irritability in Autistic Adults

Autism Research, EarlyView.
ABSTRACT Irritability is a prevalent and impairing feature associated with autism, yet remains poorly understood, particularly in adults. Drawing heavily on insights translated from pediatric and transdiagnostic literatures, we propose that irritability in autistic individuals often reflects a psychophysiological stress or threat response, rooted in a ...
Hsiang‐Yuan Lin, Arthur N. Westover, Amy S. F. Lutz, Manish K. Jha   +3 more
wiley   +1 more source

Drug-resistant epilepsy treated with a vagus nerve stimulator – case report and literature review

Journal of Education, Health and Sport
The average incidence of epilepsy worldwide is estimated at 7.60 cases per 1,000 inhabitants, with an average annual incidence of 67.77 cases per 100,000 inhabitants. Epilepsy is one of the most common neurological diseases. However, it is not a disease
Michał Leśniewski, Dominika Brzuchacz, Patrycja Błaszczeć, Agata Miecznikowska, Natalia Siwak, Iwona Welian-Polus, Klaudia Szukała, Magdalena Chrościńska-Krawczyk   +7 more
doaj   +1 more source