Results 181 to 190 of about 59,798 (297)

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

An extreme type of new onset refractory status epilepticus with stimulus‐induced seizures in pharmacological isoelectric states

Epilepsia, EarlyView.
Abstract Objective Status epilepticus (SE) is a common neurological emergency associated with high morbidity and mortality. SE is classified as refractory when it persists despite benzodiazepine and second‐line antiseizure medication. Managing refractory SE in the intensive care setting often requires high doses of sedative drugs, which can induce ...
Julie Lévi‐Strauss, Vi‐Huong Nguyen‐Michel, Espártaco Moraes Ribeiro, Virginie Lambrecq, Aurélie Hanin, Sophie Demeret, Vincent Navarro   +6 more
wiley   +1 more source

Multifocal myoclonus as a heralding manifestation of Wilson disease

, 2016
Rajesh Verma, Vikram V. Holla, Suchit Pandey, Imran Rizvi   +3 more
openalex   +1 more source

A case of primary spinal myoclonus: clinical presentation and possible mechanisms involved [PDF]

, 2003
Cynthia Campos, João Carlos Papaterra Limongi, Flávia Costa Nunes Machado, Mário Wilson Iervolino Brotto   +3 more
openalex   +1 more source

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

Epilepsia, EarlyView.
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

Case Report: Focal Myoclonus with a Striatal Lesion as a Presentation of Subacute Sclerosing Panencephalitis

, 2022
Jayantee Kalita, Sarvesh K. Chaudhury, Bishwanath Kumar, Mahesh Jadhav   +3 more
openalex   +2 more sources

Genetic complexity in pediatric onset epilepsy‐movement disorder syndromes: Insights from a cohort of 97 subjects

Epilepsia, EarlyView.
Abstract Objective Conditions presenting with both epilepsy and movement disorders (EPIMDs) range from relatively benign cases to severe developmental encephalopathies. However, the full clinical and genetic spectrum still needs to be better defined.
Davide Caputo, Roberta Solazzi, Barbara Castellotti, Celeste Panteghini, Francesca Luisa Sciacca, Elisa Visani, Elena Freri, Francesca Ragona, Laura Canafoglia, Federica Zibordi, Giovanna Zorzi, Shari Gandelli, Cinzia Gellera, Silvana Franceschetti, Nardo Nardocci, Tiziana Granata   +15 more
wiley   +1 more source

Clinical efficacy of low‐dose Perampanel correlates with neurophysiological changes in familial adult myoclonus epilepsy 2

Epilepsia Open
Familial adult myoclonus epilepsy (FAME) management relies on antiseizure medications (ASMs), which inadequately address myoclonus and cortical tremor.
Antonietta Coppola, Claudia Cuccurullo, Gianmaria Senerchia, Marica Rubino, Liana Veneziano, Francesco Brancati, Luigi Baratto, Valentina Virginia Iuzzolino, Leonilda Bilo, Pasquale Striano, Raffaele Dubbioso   +10 more
doaj   +1 more source

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

, 2014
Kathryn J. Peall, Manju A. Kurian, Mark Wardle, Adrian J. Waite, Tammy Hedderly, Jean‐Pierre Lin, Martin A. Smith, Alan Whone, Hardev Pall, Cathy White, Andrew Lux, Philip Jardine, Bryan Lynch, George Kirov, Séan O’Riordan, Michael Samuel, Timothy Lynch, Mary D. King, Patrick F. Chinnery, Thomas T. Warner, Derek J. Blake, Michael J. Owen, Huw R. Morris   +22 more
openalex   +1 more source

Epilepsy in dentatorubral–pallidoluysian atrophy: A systematic review and meta‐analysis

Epilepsia, EarlyView.
Summary of key clinical and electrophysiological characteristics of DRPLA‐related epilepsy from a systematic review and meta‐analysis of 1,191 patients. DRPLA patients with epilepsy showed earlier disease onset, longer CAG repeat expansion, and a tendency toward paternal inheritance. EEG findings frequently included photoparoxysmal responses.
Toru Horinouchi, Haruka Ishibashi, Yukako Nakagami, Yoko Kobayashi Takahashi, Takato Akiba, Masaharu Miyauchi, Naohiro Yamamoto, Ryoichi Inoue, Satoshi Kodama, Takafumi Kubota, Naoto Kuroda   +10 more
wiley   +1 more source