Results 41 to 50 of about 568 (146)

Epilepsy caused by an abnormal alternative splicing with dosage effect of the SV2A gene in a chicken model.

PLoS ONE, 2011
Photosensitive reflex epilepsy is caused by the combination of an individual's enhanced sensitivity with relevant light stimuli, such as stroboscopic lights or video games.
Marine Douaud, Katia Feve, Fabienne Pituello, David Gourichon, Simon Boitard, Eric Leguern, Gérard Coquerelle, Agathe Vieaud, Cesira Batini, Robert Naquet, Alain Vignal, Michèle Tixier-Boichard, Frédérique Pitel   +12 more
doaj   +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

Ocular Defects in Photosensitive Epilepsy

The Scientific World Journal, 2004
Patients with photosensitive epilepsy are susceptible to seizures due to photoparoxysmal response (PPR). This response adversely precipitates factors that modify the functional status of the visual system.
Ebere C. Anyanwu, John Ehiri
doaj   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

Representation and propagation of epileptic activity in absences and generalized photoparoxysmal responses [PDF]

Human Brain Mapping, 2012
AbstractAlthough functional imaging studies described networks associated with generalized epileptic activity, propagation patterns within these networks are not clear. In this study, electroencephalogram (EEG)‐based coherent source imaging dynamic imaging of coherent sources (DICS) was applied to different types of generalized epileptiform discharges,
Moeller, Friederike, Muthuraman, Muthuraman, Stephani, Ulrich, Deuschl, Günther, Raethjen, Jan, Siniatchkin, Michael   +5 more
openaire   +3 more sources

Genotypic and Phenotypic Profile of 50 Cases With Chromatin Remodeling Complexes‐Related Neurological Disorders

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
CRC‐related neurological disorders are mainly caused by variants in the CHD and BAF complex. The predominant phenotypes of CRC‐related neurological disorders were GDD/ID and epilepsy. Variants in the CHD and BAF complexes have different phenotypes.
Shimeng Chen, Fei Yin, Fang He, Ciliu Zhang, Xiaolu Deng, Lifen Yang, Li Yang, Chen Chen, Fangyun Liu, Jing Peng   +9 more
wiley   +1 more source

Evolution of the European Medicines Agency clinical guidelines for epilepsy drug development between 2010 and 2025: A comparative analysis by the ILAE Task Force on Regulatory Affairs

Epilepsia, Volume 67, Issue 6, Page 2743-2754, June 2026.
Abstract Objective The latest European Medicines Agency (EMA) guideline on the clinical investigation of medicines to treat epileptic disorders was adopted by the EMA Committee for Medicinal Products for Human Use in 2025. We compared this guideline with the previous version (2010), highlighting areas where significant revisions were introduced ...
Stéphane Auvin, Alexis Arzimanoglou, Jacqueline French, Kelly G. Knupp, Lieven Lagae, Eugen Trinka, Dennis Dlugos, Emilio Perucca   +7 more
wiley   +1 more source

Focal photoparoxysmal response in the Heidenhain variant of CJD [PDF]

Neurology, 2016
A 73-year-old, right-handed man presented with new-onset right visual field diminution and visual hallucinations. Examination showed a right homonymous hemianopia without cognitive impairment. Brain imaging showed left occipital cortex abnormalities (figure, A and B).
Anteneh M, Feyissa, Elaine C, Wirrell, David T, Jones, Nathan P, Young, Jeffrey W, Britton   +4 more
openaire   +2 more sources

Unilateral ultra long‐term subcutaneous EEG monitoring in drug‐refractory idiopathic generalized epilepsy

Epilepsia, Volume 67, Issue 1, Page 396-407, January 2026.
Abstract Objective Seizure self‐reporting is known to be unreliable, particularly with non‐convulsive seizures. There is increasing interest in long‐term monitoring systems to detect and count seizures, including the use of the minimally‐invasive CE‐marked subcutaneous unilateral electroencephalography (EEG) recording system, which has been shown to ...
Tudor Munteanu, Bryoni Daly, Cara O'Donnell, Annette Breen, Tenzin Choekyi, Breege Staunton‐Grufferty, Donncha O'Brien, Kieron Sweeney, Ronan Kilbride, Peter Widdess‐Walsh, Hany El‐Naggar, Norman Delanty   +11 more
wiley   +1 more source

Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology

Epilepsia, Volume 67, Issue 1, Page 272-290, January 2026.
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini, Ilaria Galli, Maria Luisa Ricci, Elena Parrini, Davide Mei, Mario Mastrangelo, Francesco Pisani, Corinna Filippi, Lucio Giordano, Elisabetta Cesaroni, Carla Marini, Emanuele Cerulli Irelli, Carlo di Bonaventura, Marica Rubino, Antonietta Coppola, Jacopo Proietti, Tommaso Lo Barco, Francesca Darra, Laura Licchetta, Francesca Bisulli, Marco Perulli, Domenica Battaglia, Angela De Dominicis, Marina Trivisano, Nicola Specchio, Roberta Solazzi, Davide Caputo, Laura Canafoglia, LICE Collaborative group, Carmen Barba, Emanuele Bartolini, Pia Bernardo, Maria Paola Canevini, Gaetano Cantalupo, Susanna Casellato, Mara Cavallin, Ilaria Contaldo, Alessandro Ferretti, Maria Luigia Gambardella, Tiziana Granata, Giuliana Lentini, Anna Luchetti, Federico Melani, Pasquale Parisi, Simona Pellacani, Laura Pietrangelo, Tiziana Pisano, Ilaria Onida, Emilia Ricci, Aglaia Vignoli, Renzo Guerrini   +50 more
wiley   +1 more source