Results 21 to 30 of about 527 (127)

The challenge of ultra-rarity: Dual diagnosis of Lafora disease and developmental encephalopathies linked to TRIO and SHANK3 pathogenic variants. [PDF]

Epilepsia Open
Abstract We report two cases of dual genetic diagnoses involving Lafora disease (LD) and co‐occurring neurodevelopmental disorders caused by pathogenic variants in TRIO and SHANK3, respectively. LD is an ultra‐rare, autosomal recessive, severe form of progressive myoclonus epilepsy affecting previously healthy children or adolescents. In both patients,
Muccioli L, Bisulli F, Minardi R, Valentino ML, De Simone M, Paroni RA, Cesnik E, Fallica E, Bonan L, Pizzi E, DEFEAT‐LD Study Group, Cantalupo G, Licchetta L.   +12 more
europepmc   +2 more sources

Prospective evaluation of clinical characteristics, treatment efficacy, and seizure remission in adult-onset genetic generalized epilepsy. [PDF]

Epilepsia Open
Abstract Objective This prospective study aims to characterize the spectrum of epilepsy syndromes among adult patients newly diagnosed with genetic generalized epilepsy (GGE). Additionally, it aims to examine their clinical characteristics, evaluate their response to treatment, and assess the feasibility of treatment discontinuation across each ...
Khalife L, Harb A, Jaafar F, Beydoun A, Wazne J, Toufaili H, Moussa B, Beydoun A.   +7 more
europepmc   +2 more sources

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

Red‐light flashing pens and seizures in children

Developmental Medicine &Child Neurology, EarlyView.
Guidelines exist to limit seizure‐provoking visual stimuli. However, existing recommendations are not universally applied, and poorly regulated flickering lights are easily encountered in consumer products. Two girls experienced prolonged absence seizures triggered by a red‐light flickering pen.
Simone Gasparini, Alice Dainelli, Francesca Piras, Simona Balestrini, Renzo Guerrini   +4 more
wiley   +1 more source

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

Lenses protecting against photosensitivity violate international driving regulations

Epilepsia, EarlyView.
Lena Bender, Wolf Lagrèze, Martin Hirsch, Andreas Schulze‐Bonhage   +3 more
wiley   +1 more source

Using Cenobamate for managing idiopathic generalized epilepsy: A single‐center experience and systematic literature review

Epilepsia Open, Volume 10, Issue 6, Page 1871-1882, December 2025.
Abstract Objective To evaluate the single‐center experience of Cenobamate's (CNB) off‐label use in adults with idiopathic generalized epilepsy (IGE). Methods We conducted a retrospective review of electronic health records within a large healthcare system to identify IGE patients prescribed CNB.
Nicole Woodrich, Andreas Alexopoulos, Dileep Nair, Imad M. Najm, Vineet Punia   +4 more
wiley   +1 more source

Diagnosis and treatment of occipital brain lesions in children

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1409-1420, November 2025.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini, Giulia Savoca, Matteo Tassone, Tiziana Metitieri, Renzo Guerrini   +4 more
wiley   +1 more source

Prevalence of photoparoxysmal response among south indian epilepsy patients

Seizure, 1998
The reported geographical variations in the prevalence of photoparoxysmal response (PPR) among epilepsy patients have been variously attributed to methodological problems such as patient selection, technique of intermittent photic stimulation (IPS) and definition of PPR, and environmental and racial factors.
Radhakrishnan, K., Nayak, S.D., Nandini, V.S., Venugopal, A.   +3 more
openaire   +2 more sources