Results 81 to 90 of about 5,960 (193)

CLN6‐related continuum phenotype caused by aberrant splicing

Epilepsia Open
Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life‐expectancy.
Federica Invernizzi, Barbara Castellotti, Chiara Reale, Celeste Panteghini, Isabel Colangelo, Roberta Solazzi, Francesca Ragona, Lucio Giordano, Jessica Galli, Davide Rossi Sebastiano, Gianluca Marucci, Valeria Cuccarini, Giuseppe Didato, Cinzia Gellera, Barbara Garavaglia, Tiziana Granata, Laura Canafoglia   +16 more
doaj   +1 more source

Rapid recovery after intrathecal dexamethasone in FIRES

Epileptic Disorders, Volume 28, Issue 3, Page 884-887, June 2026.
João Filipe Nico, Ana Rita Fradique, Catarina Teixeira, Rita Moinho, Mariana Leitão Marques, Constança Santos, Joana Afonso Ribeiro, Filipe Palavra, Cristina Pereira   +8 more
wiley   +1 more source

Macroscale Gradient‐Informed Neural Oscillation Topography in Parkinson's Disease

Movement Disorders, Volume 41, Issue 6, Page 1434-1444, June 2026.
Abstract Background Parkinson's disease (PD) is characterized by large‐scale disruptions in beta and gamma oscillations. Although subcortical beta power is an established biomarker for current adaptive deep brain stimulation (aDBS), it may not fully capture the global pathophysiological burden and the macroscale hierarchical reorganization of the ...
Hao Ding, Ke Xie, Manuel Bange, Hannah Kühne, Jenny Blech, Bahman Nasseroleslami, Jens Volkmann, Sergiu Groppa, Muthuraman Muthuraman   +8 more
wiley   +1 more source

Epilepsia partialis continua as the presenting manifestation of Creutzfeldt–Jakob disease: A video‐polygraphic clinical vignette

Epileptic Disorders, Volume 28, Issue 3, Page 920-924, June 2026.
Roberta Cutellè, Angelo Pascarella, Ada Santoro, Vittoria Cianci, Anna Mammì, Giovanbattista Gaspare Tripodi, Caterina Prestandrea, Sara Gasparini, Edoardo Ferlazzo   +8 more
wiley   +1 more source

Perspective: Depression in Persons with Parkinson's Disease

Movement Disorders, Volume 41, Issue 6, Page 1355-1361, June 2026.
Abstract Depression is a prevalent and disabling syndrome characterized by sustained sadness and/or anhedonia, as well as cognitive and physical symptoms. In Parkinson's disease (PD), depression is both common and clinically challenging due to overlapping symptoms and complex etiologic interactions. Major depressive disorder occurs in approximately 17%
Albert F.G. Leentjens, Gregory M. Pontone   +1 more
wiley   +1 more source

Myoclonus: Differential diagnosis and current management

Epilepsia Open
Myoclonus classically presents as a brief (10–50 ms duration), non‐rhythmic jerk movement. The etiology could vary considerably ranging from self‐limited to chronic or even progressive disorders, the latter falling into encephalopathic pictures that need
Antonella Riva, Gianluca D'Onofrio, Edoardo Ferlazzo, Angelo Pascarella, Elena Pasini, Silvana Franceschetti, Ferruccio Panzica, Laura Canafoglia, Aglaia Vignoli, Antonietta Coppola, Valeria Badioni, Francesca Beccaria, Angelo Labate, Antonio Gambardella, Antonino Romeo, Giuseppe Capovilla, Roberto Michelucci, Pasquale Striano, Vincenzo Belcastro   +18 more
doaj   +1 more source

Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy. [PDF]

Genes (Basel), 2023
Hentrich L, Parnes M, Lotze TE, Coorg R, de Koning TJ, Nguyen KM, Yip CK, Jungbluth H, Koy A, Dafsari HS.   +9 more
europepmc   +1 more source

From Pharmacodynamic Biomarker to Evaluating Treatment Response: Biomarkers in Primary Mitochondrial Diseases

Clinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT Primary mitochondrial diseases (PMDs) result from genetic variants in nuclear DNA and mitochondrial DNA which commonly lead to aberrant oxidative phosphorylation. The clinical complexity, often attributed to the underlying genetics, includes several distinct syndromes (e.g., Barth syndrome; Pearson syndrome; Mitochondrial encephalomyopathy ...
Sydney Stern, Karryn Crisamore, John Patton, Robert Schuck, Michael Pacanowski   +4 more
wiley   +1 more source

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Annals of Clinical and Translational Neurology, 2019
Objective To analyze clinical phenotypes associated with KCNC1 variants other than the Progressive Myoclonus Epilepsy‐causing variant p.Arg320His, determine the electrophysiological functional impact of identified variants and explore genotype‐phenotype ...
Jillian M. Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogné, Stéphane Bézieau, Edward Blair, Bertrand Isidor, Christiane Zweier, André Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, A. H. M. Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Bénédicte Héron, Steven Petrou, Samuel F. Berkovic   +20 more
doaj   +1 more source

Infantile-Onset Unverricht–Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family History

Journal of Investigative Medicine High Impact Case Reports
Progressive myoclonus epilepsies (PMEs) are a group of genetic disorders marked by myoclonus, epilepsy, and progressive neurological decline. Unverricht–Lundborg disease (ULD) is among the more common forms, though prevalence varies.
Basel Zaben MD, Anas R. Tuqan MD, Oday Hammad MD, Roa Jweiles MD, Sarah Awad MD, Anas Mufeed Barabrah MD, Osama Atawneh MD, Sharehan Jo’beh MD   +7 more
doaj   +1 more source