Results 181 to 190 of about 14,859 (310)

Haploinsufficiency of brain‐specific kinase BRSK1 causes epilepsy and neurodevelopmental disorders

Epilepsia, EarlyView.
Abstract Objective The BRSK1 gene encodes brain‐specific serine/threonine kinase 1 (also known as SAD‐B kinase), which is almost exclusively expressed in the brain and plays critical roles in neuronal polarization, neurotransmitter release, mitochondrial dynamics, and neuronal maturation.
Qi Zhang, Hiroshi Yamanaka, Ping Li, Yingfeng Li, Tian Luo, Miao Xia, Ting Liu, Xueyan Liu, Qing Lu, Bin Yang, Fan He, Kaixian Du, Yousheng Shu, Bo Peng, Yong‐hui Jiang, Yi Wang   +15 more
wiley   +1 more source

Pharyngolaryngeal spasm‐induced dysphagia in an epileptic patient undergoing vagus nerve stimulation therapy [PDF]

, 2020
Luca Castellani, Valentina Chiesa, Alberto Maccari, Emanuela Fuccillo, Maria Paola Canevini, Giovanni Felisati, Alberto Maria Saibene   +6 more
openalex   +1 more source

Seizure classification using a multimodal seizure monitoring system (Nelli) in Dravet and Lennox–Gastaut syndromes: A non‐randomized, single‐center feasibility study

Epilepsia, EarlyView.
Abstract Objective This study aimed to assess the performance of the Nelli seizure monitoring system in detecting and classifying seizures during sleep or while at rest in bed in patients with Lennox–Gastaut syndrome (LGS) and Dravet syndrome (DS). Methods We conducted a non‐interventional, single‐center feasibility study from August 2023 to March 2024,
Line Kønig Wilms, Morten I. Lossius, Kaapo Annala, Jonas Abdel‐Khalik, Lena Fanter, Kaisa Elomaa, Jukka Peltola   +6 more
wiley   +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

Long‐term outcomes of stereotactic radiofrequency ablation in hypothalamic hamartomas: A single‐center experience

Epilepsia, EarlyView.
Abstract Objective Hypothalamic hamartomas (HHs) lead to refractory epilepsy, and minimally invasive surgical approaches are standard of care for affected patients. Stereotactic radiofrequency thermocoagulation (SRT) is one of the treatment methods recognized to achieve seizure freedom. This study reports surgical outcome from a single center reporting
Peter Christoph Reinacher, Julia Jacobs, Mukesch Johannes Shah, Theo Demerath, Kathrin Wagner, Victoria San Antonio‐Arce, Horst Urbach, Volker Arnd Coenen, Andreas Schulze‐Bonhage, Kerstin Alexandra Klotz   +9 more
wiley   +1 more source

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

Syndromic and etiological classification predicts seizure freedom in childhood and youth onset epilepsy: A population‐based study from the Norwegian Mother, Father, and Child Cohort Study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to determine the proportion of individuals with childhood and youth onset epilepsy who attain seizure freedom across seizure types, epilepsy types, etiologies, and syndromes using the latest International League Against Epilepsy (ILAE) classifications.
Truls Vikin, Richard F. Chin, Morten I. Lossius, Dag Hofoss, Ragnhild E. Brandlistuen, Kari M. Aaberg   +5 more
wiley   +1 more source

Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop

Epilepsia, EarlyView.
Abstract Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical features derives from the high etiological heterogeneity within the syndrome, which could make its ...
Antonella Riva, Gianluca D'Onofrio, Elisabetta Amadori, Alexis Arzimanoglou, Stéphane Auvin, Irene Bagnasco, Paola Barabino, Valentina Biagioli, Isabella Brambilla, Giuliana Cangemi, Antonietta Coppola, Antonella De Lillo, Carlo Di Bonaventura, Giancarlo Di Gennaro, Edoardo Ferlazzo, Antonio Gil‐Nagel, Giuseppe Gobbi, Simona Lattanzi, Gerhard Kluger, Günter Krämer, Maria Margherita Mancardi, Carlo Minetti, Lino Nobili, Elisa Paravati, Milka Pringsheim, Erika Rebessi, Antonino Romeo, Angelo Russo, Emilio Russo, Katia Santoro, Susanne Schubert‐Bast, Laura Siri, Jo Sourbron, Maria Stella Vari, Alberto Verrotti, Flavio Villani, Maurizio Viri, Celina von Stülpnagel, Nelia Zamponi, Federico Zara, Pasquale Striano   +40 more
wiley   +1 more source

Pediatric Investigation Plans for seizure and epilepsy treatments: An analysis since the implementation of the European Pediatric Regulation in 2006

Epilepsia, EarlyView.
Abstract Objective A Pediatric Investigation Plan (PIP) implemented under the European Pediatric Regulation (EC No. 1901/2006) aims to ensure early and systematic evaluation of medicines for children. We analyze PIPs for antiseizure medications (ASMs) submitted to the European Medicines Agency (EMA) since 2006, characterizing their content, focusing on
Valeria Agostini, Stéphane Auvin
wiley   +1 more source

Clinical trajectories and medication response in TBC1D24‐related epilepsies

Epilepsia, EarlyView.
Abstract Objective Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24‐related disorders.
Ealing Mondragon, Jan H. Magielski, Bintou Bane, JoeyLynn Nolan, Sarah M. Ruggiero, Dallas Armstrong, Susan Arnold, Deepa Sirsi, Ingo Helbig, Jillian L. McKee   +9 more
wiley   +1 more source