Results 111 to 120 of about 133,799 (192)

Absence seizures and sleep–wake abnormalities in a rat model of GRIN2B neurodevelopmental disorder

Epilepsia, EarlyView.
Abstract Objective Pathogenic mutations in GRIN2B are an important cause of severe neurodevelopmental disorders resulting in epilepsy, autism, and intellectual disability. GRIN2B encodes the GluN2B subunit of N‐methyl‐d‐aspartate receptors (NMDARs), which are ionotropic glutamate receptors critical for normal development of the nervous system and ...
Katerina Hristova, Melissa C. M. Fasol, Niamh McLaughlin, Mohammad Sarfaraz Nawaz, Mehmet Taskiran, Ingrid Buller‐Peralta, Anjanette P. Harris, Andrew Sutherland, Alejandro Bassi, Adrian Ocampo‐Garces, Javier Escudero, Peter C. Kind, Alfredo Gonzalez‐Sulser   +12 more
wiley   +1 more source

Deciphering SCN2A: A comprehensive review of rodent models of Scn2a dysfunction

Epilepsia, EarlyView.
Abstract SCN2A encodes for the alpha subunit of the voltage‐gated sodium channel NaV1.2, which is involved in action potential initiation and backpropagation in excitatory neurons. Currently, it is one of the highest monogenetic risk factors for both epilepsy and autism spectrum disorder.
Katelin E. J. Scott, Maria Fernanda Hermosillo Arrieta, Aislinn J. Williams   +2 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

Clinical profile of vigabatrin as monotherapy for treatment of infantile spasms

Neuropsychiatric Disease and Treatment, 2010
Jason T Lerner1, Noriko Salamon2, Raman Sankar1,31Departments of Pediatrics, 2Radiological Sciences, 3Neurology, David Geffen School of Medicine, University of California Los Angeles and Mattel Children’s Hospital at UCLA, Los Angeles, CA ...
Jason T Lerner, Noriko Salamon, Raman Sankar   +2 more
doaj  

Adapting Action Recognition Neural Networks for Automated Infantile Spasm Detection

IEEE Transactions on Neural Systems and Rehabilitation Engineering
Infantile spasms are a severe epileptic syndrome characterized by short muscular contractions lasting from 0.5 to 2 seconds. They are often misdiagnosed due to their atypical presentation, and treatment is frequently delayed, leading to stagnation or ...
Samuel Diop, Nouha Essid, Francois Jouen, Jean Bergounioux, Imen Trabelsi   +4 more
doaj   +1 more source

Cerebral visual impairment (CVI) overlooked: A retrospective review of missed opportunities to diagnose CVI

Ophthalmic and Physiological Optics, EarlyView.
Abstract Purpose Cerebral Visual Impairment (CVI) is the leading cause of paediatric visual impairment in developed countries. Earlier diagnosis provides access to early intervention, which may improve visual function, functional vision and developmental outcomes.
Melissa L. Rice, Terry L. Schwartz, Jillian Bulman, Li Lin, Karen Harpster   +4 more
wiley   +1 more source

Comorbidities in Mild WAS/XLT Require Lifelong Follow‐Up and Consideration of Definitive Treatment

American Journal of Hematology, Volume 100, Issue 11, Page 2004-2016, November 2025.
Our study followed the clinical and biological course of 261 WAS/XLT patients, including 170 with a mild form of the disease. The occurrence of late complications even in mild patients confirms the importance of offering lifelong follow‐up and considering definitive treatment (HSCT/gene therapy) for all patients.
Coralie Mallebranche, Charline Miot, Mickael Alligon, Despina Moshous, Benedicte Neven, Vincent Barlogis, Virginie Courteille, Bénédicte Bruno, Marie Ouachée‐Chardin, Dalila Adjaoud, Yves Delneste, Olivier Bouaziz, Capucine Picard, Alain Fischer, Nizar Mahlaoui, Isabelle Pellier, Members of the CEREDIH French PID Study Group   +16 more
wiley   +1 more source

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography

Developmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1383-1408, November 2025.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Ana Alarcón, Nuria Carreras, Tobias Muehlbacher, Dídac Casas‐Alba, Roberta Arena, Paola Roca‐Llabrés, Juan Navarro‐Morón, Linda S. de Vries, Paul Govaert, the EurUS.Brain group, Thais Agut, Roberta Arena, Ana Alarcón, Juan Arnáez, Marco Bartocci, Isabel Benavente‐Fernández, María Carmen Bravo, Fernando Cabañas, Nuria Carreras, Olivier Claris, Jeroen Dudink, Monica Fumagalli, Alfredo García‐Alix, Paul Govaert, Sandra Horsch, Simón Lubián, Tobias Muehlbacher, Alessandro Parodi, Adelina Pellicer, Luca Ramenghi, Charles C. Roehr, Simone Schwarz, Sylke Steggerda, Eva Valverde   +33 more
wiley   +1 more source

Structural Basis of GABAB Receptor Activation during Evolution

Advanced Science, Volume 12, Issue 37, October 6, 2025.
This study explores the structural and functional mechanisms of the drosophila GABAB receptor, a key role in neurotransmission. Using cryo‐EM, the research reveals how the receptor's activation differs from its human counterpart, highlighting unique evolutionary features.
Guofei Hou, Shenglan Zhang, Cangsong Shen, Suyu Ji, Binqian Zou, Chanjuan Xu, Liang Li, Dandan Shen, Jiayin Liang, Haidi Chen, Philippe Rondard, Cheng Deng, Jun He, Yan Zhang, Jianfeng Liu   +14 more
wiley   +1 more source