Results 131 to 140 of about 14,532 (228)

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

Examining the association between placental malperfusion assessed by histopathological examination and child and adolescent neurodevelopment: a systematic review

Journal of Child Psychology and Psychiatry, EarlyView.
Background Placental malperfusion, categorised into maternal vascular malperfusion (MVM) and foetal vascular malperfusion (FVM), is a main placental pathology known to affect placental functioning and offspring outcomes. The aim of this review is to evaluate the association between exposure to placental malperfusion and offspring neurodevelopment from ...
Noha Ibrahim, Sydni A. Weissgold, Lucy Brink, Ibtihal Mahgoub, Ben Carter, Vaheshta Sethna, Hein Odendaal   +6 more
wiley   +1 more source

Cellular properties of convulsant-treated rat neo-cortical neurons during postnatal development [PDF]

, 1989
Hablitz, John H., Kellaway, Peter, Noebels, Jeffrey L., Sutor, Bernd   +3 more
core   +1 more source

Vigabatrin for Infantile Spasms

Pediatric Neurology Briefs, 1999
The efficacy of vigabatrin (VGB) as the first, and adrenocorticotropin hormone (ACTH) or valproate (VPA) as the second, treatment of choice for newly diagnosed infantile spasms was evaluated in 42 infants treated at the University of Helsinki, Finland.
openaire   +3 more sources

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

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 76-87, October 2025.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

The Values and Preferences of People Living With Motor Neurone Disease (MND): A Systematic Review Protocol

Clinical and Public Health Guidelines, Volume 2, Issue 4, October 2025.
ABSTRACT Objective To systematically review the values and preferences of people with lived experience of motor neurone disease (MND), including those living with MND, caregivers and genetic carriers, regarding their health‐related outcomes. Introduction MND is a devastating neurodegenerative disease that significantly impacts those living with the ...
Timothy Hugh Barker, Grace Holland, Camille Schubert, Danielle Pollock, Cindy Stern, Nipun Shrestha, Wojtek Wiercioch, Samer Karam, Steve Vucic, Jay Beasley‐Hall, Lynne Giles, Tracy Merlin, Zachary Munn   +12 more
wiley   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

Annals of Neurology, Volume 98, Issue 3, Page 573-589, September 2025.
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer, A. Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn Pais, Anne O'Donnell‐Luria, Grace E. VanNoy, Allan Bayat, Rikke S Møller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H. Seaver, Jennifer A. Sullivan, Vandana Shashi, Fowzan S. Alkuraya, Alexis F. Poss, J. Edward Spence, Rhonda E. Schnur, Ian C. Forster, Chaseley E. Mckenzie, Cas Simons, Min Wang, Penny Snell, Kavitha Kothur, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Daniel Henrion, Guy Lenaers, Estelle Colin, Nienke E. Verbeek, Koen L. Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A. Reid, Katherine B. Howell, Alban Ziegler, Christian Legros   +52 more
wiley   +1 more source

Cannabinoids for Medical Purposes in Children: A Living Systematic Review

Acta Paediatrica, Volume 114, Issue 9, Page 2148-2159, September 2025.
ABSTRACT Aim We developed a living systematic review (LSR) that will continuously map the safety and reported benefit data related to cannabinoid use for medical purposes in children. Methods MEDLINE, Embase, PsycInfo, and the Cochrane Library were searched from inception to April 2023.
Manik Chhabra, Arun Paul, Omaymah Abulannaz, Mê‐Linh Lê, Holly Mansell, Yaron Finkelstein, Richard J. Huntsman, Lauren E. Kelly   +7 more
wiley   +1 more source