Results 101 to 110 of about 15,063 (315)

Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias. [PDF]

, 2015
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures.
Albanese, Alongi, Altenmüller, Argyelan, Baird, Baizabal-Carvallo, Berardelli, Black, Bragg, Brakebusch, Breakefield, Brüggemann, Burkhard, Byrnes, Chang, Chang, Charlier, Clemmons, De Lahunta, De Ley, De Vlamynck, Defazio, Deuschl, Deuschl, Di Riso, Draper, Du, Elia, Erro, Evinger, Fahn, Forman, Fremont, Garosi, Garosi, Geiger, Geyer, Gilio, Gill, Gill, Gill, Gittis, Goodchild, Grünberg, Hallett, Hamann, Harcourt-Brown, Harvey, Herrtage, Ikoma, Jankovic, Jankovic, Jankovic, Jinnah, Jinnah, Jinnah, Kaji, Klein, Kuyper, Lohmann, Lowrie, Malone, Martlé, McCall, Meyer-Lindenberg, Meyers, Meyers, Meyers, Meyers, Müller, Nardocci, Nollet, Nollet, Obeso, Ostrander, Ozelius, Packer, Packer, Pariset, Park, Paudel, Penderis, Peters, Peterson, Prudente, Quartarone, Quartarone, Raike, Ramsey, Rascol, Richter, Richter, Richter, Richter, Richter, Ridding, Rothwell, Rothwell, Rusbridge, Sacchetto, Sanger, Shelton, Stoessl, Suls, Testoni, Thenganatt, Tolosa, Urkasemsin, Valberg, Vanhaesebrouck, Wichmann, Wilson, Wissel, Woods, Wright, Wright, Yanagisawa   +116 more
core   +2 more sources

Memantine treatment in individuals with GRIN gain‐of‐function variants is associated with improvements in behavior, development, and seizure frequency

Epilepsia, EarlyView.
Abstract Objective GRIN‐related disorders due to pathogenic variants in GRIN1, GRIN2A, GRIN2B, or GRIN2D genes are associated with altered N‐methyl‐D‐aspartate receptor (NMDAR) function. Functional changes include gain (GoF) and loss of receptor function (LoF). Clinical reports describing the use of the NMDAR blocker memantine in GRIN‐related disorders
Maike Karnstedt, Riley E. Perszyk, Scott J. Myers, Ellington McDaniels, Marta Somorai, Ingo Borggraefe, Danielle C. M. Veenma, An‐Sofie Schoonjans, Pasquale Striano, Tadeu A. Fantaneanu, Steffen Syrbe, Kristen Park, Wenjuan Chen, Hongjie Yuan, Stephen F. Traynelis, Timothy A. Benke, Johannes R. Lemke, Ilona Krey   +17 more
wiley   +1 more source

Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled trials [PDF]

, 2022
John Osborne, Stuart W. Edwards, Fabienne Dietrich Alber, Eleanor Hancock, Anthony L. Johnson, Colin Kennedy, Marcus Likeman, Andrew Lux, Mark T. Mackay, Andrew A. Mallick, Richard Newton, Melinda Nolan, Ronit Pressler, D. Rating, Bernhard Schmitt, Christopher Verity, Finbar O’Callaghan   +16 more
openalex   +1 more source

Optimal approach to standardized documentation in epilepsy clinics: A scoping review

Epilepsia, EarlyView.
Abstract Clear documentation and transfer of information between health care providers is key to ensuring the delivery of high‐quality patient care. Our aim was to determine how to optimize and standardize physician documentation in outpatient epilepsy clinics as well as to highlight challenges and barriers to their implementation.
Shahab Marzoughi, Maren Kimura, Bamby Joseph, Alina Zhao, Diane L. Lorenzetti, Dang K. Nguyen, Mark Keezer, Colin B. Josephson, Nathalie Jetté   +8 more
wiley   +1 more source

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

Epilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy, CANDID Partners, Tricia Cimms, Kristina Lindsten, Marco Rizzo, Alison Skrinar, Peter St. Wecker, Ana Mingorance, Orrin Devinsky   +8 more
wiley   +1 more source

Yield of Outpatient Sleep EEG for Epileptiform Alterations' Detection in Children. [PDF]

, 2016
PURPOSE: Ambulatory EEGs in children are frequently ordered as sleep studies. However, the yield according to different clinical situations has received little attention to date.
Jequier-Gygax, M., Novy, J., Ontiveros, S., Rossetti, A.O.   +3 more
core   +1 more source

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

Inroads into epilepsy through high‐frequency oscillations: Achievements and benchmark areas for improvement

Epilepsia, EarlyView.
Abstract High‐frequency oscillations (HFOs) were discovered more than 20 years ago, and since then they have been studied intensively in the context of epilepsy. HFOs encompass a broad spectrum of oscillations, typically ranging from 80 Hz to several kHz, that include both normal and pathological oscillations, documented in people with epilepsy and ...
Christos Panagiotis Lisgaras, Birgit Frauscher, Jean Gotman, Julia Jacobs, Philippe Kahane, Richard J. Staba, Maeike Zijlmans   +6 more
wiley   +1 more source

The Digital Diagnostic Odyssey: Artificial Intelligence and Social Media Crowdsourcing Amid Pediatric Neurology Access Gaps

Annals of the Child Neurology Society, EarlyView.
Audrey M. Smith, Rachel Vassar
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source