Results 181 to 190 of about 2,878,066 (285)

Tremor as an intrinsic feature of juvenile myoclonic epilepsy

Epilepsia, Volume 66, Issue 3, Page e47-e53, March 2025.
Abstract We aim to understand whether tremor may be an intrinsic feature of juvenile myoclonic epilepsy (JME) and whether individuals with JME plus tremor experience a different disease course. Thirty‐one individuals with JME plus tremor (17 females, mean age = 33.9 ± 13.8 years) and 30 age of onset‐ and gender‐matched subjects with JME (21 females ...
Alessia Giugno, Francesco Fortunato, Ilaria Sammarra, Miriam Sturniolo, Enrico Fratto, Iolanda Martino, Rita Nisticò, Antonio Gambardella   +7 more
wiley   +1 more source

First-in-Human Trial of Photodynamic Therapy for Spinal Cord Malignant Astrocytoma: Study Protocol. [PDF]

Neurospine
Endo T, Takahashi Y, Nishizawa T, Sasaki T, Sato A, Fukami S, Miyata S, Akimoto J.   +7 more
europepmc   +1 more source

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real‐world study

Epilepsia, EarlyView.
Abstract Objective This real‐world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment ...
Emanuele Cerulli Irelli, Adolfo Mazzeo, Roberto H. Caraballo, Marco Perulli, Patrick B. Moloney, Javier Peña‐Ceballos, Marica Rubino, Katarzyna M. Mieszczanek, Andrea Santangelo, Laura Licchetta, Valentina De Giorgis, Gabriela Reyes Valenzuela, Susanna Casellato, Elisabetta Cesaroni, Francesca F. Operto, Jana Domínguez‐Carral, Alia Ramírez‐Camacho, Alessandro Ferretti, Giuseppe Santangelo, Angel Aledo‐Serrano, Andrea Rüegger, Maria M. Mancardi, Giulia Prato, Antonella Riva, Luca Bergonzini, Duccio M. Cordelli, Paolo Bonanni, Francesca Bisulli, Giancarlo Di Gennaro, Sara Matricardi, Pasquale Striano, Norman Delanty, Carla Marini, Domenica Battaglia, Carlo Di Bonaventura, Georgia Ramantani, Elena Gardella, GENE‐CBD Study Group, Alessandro Orsini, Antonietta Coppola, Alessandra Morano, Nicola Simeone, Claudia Cuccurullo, Massimo Scacciati, Alice Bonuccelli, Maddalena Bianchetti, Alberto Verrotti, Marta Piccioli, Massimiliano Celario, Elena Tartara, Giulia Balletto, Chiara Bagliani, Beatriz Gonzalez Giraldez, Pasquale Parisi, Carmen Salluce, Emanuele Bartolini, Maria Del Carmen Fons‐Estupiña, Federico Ramos, Alberto Danieli, Alessandra Rossi, Elisabetta Pantaloni, Ana Laura Fernandez‐Perrone, Giorgio Magli, Ilaria Onida, Giulia Bruschi, Lorenzo Muccioli, Tomasz S. Mieszczanek, Trine Hammer, Francesca Furia   +68 more
wiley   +1 more source

Clinical and molecular overlap between nucleotide excision repair (NER) disorders and <i>DYRK1A</i> haploinsufficiency syndrome. [PDF]

Front Neurosci
Le May N, Courraud J, Boujelbène I, Obringer C, Ogi T, Lehmann AR, Laffargue F, Lehalle D, Mizuno S, Mohammed S, Ormières C, Willems M, Laugel V, Calmels N.   +13 more
europepmc   +1 more source

Assessing the diagnostic performance of investigations in pediatric myoclonic epilepsies: A retrospective cohort study

Epilepsia, EarlyView.
Abstract Objective The primary purpose was to assess the diagnostic performance of investigations in children with myoclonic epilepsy. The secondary objectives were to examine the definitive syndromic diagnoses and report the outcomes of pediatric myoclonic epilepsies.
Sophie Brulé, Blandine Dozières‐Puyravel, Hala Nasser, Monique Elmaleh‐Bergès, François‐Xavier Mauvais, Stéphane Auvin   +5 more
wiley   +1 more source

CLN6-related continuum phenotype caused by aberrant splicing. [PDF]

Epilepsia Open
Invernizzi F, Castellotti B, Reale C, Panteghini C, Colangelo I, Solazzi R, Ragona F, Giordano L, Galli J, Rossi Sebastiano D, Marucci G, Cuccarini V, Didato G, Gellera C, Garavaglia B, Granata T, Canafoglia L.   +16 more
europepmc   +1 more source

The human photosensitive epilepsy model for clinical proof‐of‐principle trials of novel antiseizure medications: 2. Analysis of drug trials and predictive value of the model

Epilepsia, EarlyView.
Abstract Clinical development of novel antiseizure medications (ASMs) would benefit from an early proof of principle (POP) model. The photosensitivity model, which uses the photoparoxysmal electroencephalographic response (PPR) as a surrogate of seizures, is currently the only human model that allows POP trials of investigational compounds after a ...
Wolfgang Löscher, Dorothée Kasteleijn‐Nolst Trenité   +1 more
wiley   +1 more source

Cancer-Associated Retinopathy Presenting as Panuveitis Secondary to Minimally Invasive Follicular Thyroid Carcinoma. [PDF]

J Vitreoretin Dis
Arnold N, Mishra A, Seamone M.
europepmc   +1 more source

The human photosensitive epilepsy model for clinical proof‐of‐principle trials of novel antiseizure medications. 1. Use of the EEG in drug development and characteristics of the model

Epilepsia, EarlyView.
Abstract Clinical development of novel antiseizure medications (ASMs) would benefit from an early proof‐of‐principle (POP) model. The photosensitivity model, which uses the photoparoxysmal electroencephalography (EEG) response (PPR) as a surrogate for seizures, is currently the only human model that allows POP trials of investigational compounds after ...
Dorothée Kasteleijn‐Nolst Trenité, Wolfgang Löscher   +1 more
wiley   +1 more source

Juvenile Dermatomyositis and Hepatitis B Viral Infection. [PDF]

Eur J Case Rep Intern Med
Younis AA, Ahmed Al-Harbi AA.
europepmc   +1 more source