Results 111 to 120 of about 9,475 (246)

Response to treatment and outcomes of infantile spasms in Down syndrome. [PDF]

Dev Med Child Neurol, 2022
Harvey S, Allen NM, King MD, Lynch B, Lynch SA, O'Regan M, O'Rourke D, Shahwan A, Webb D, Gorman KM, Irish Paediatric Neurology Group.   +10 more
europepmc   +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

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

Effectiveness of ACTH in Patients with Infantile Spasms. [PDF]

Brain Sci, 2022
Paprocka J, Malkiewicz J, Palazzo-Michalska V, Nowacka B, Kuźniak M, Kopyta I.   +5 more
europepmc   +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

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

Inequities in Therapy for Infantile Spasms: A Call to Action. [PDF]

Ann Neurol, 2022
Baumer FM, Mytinger JR, Neville K, Briscoe Abath C, Gutierrez CA, Numis AL, Harini C, He Z, Hussain SA, Berg AT, Chu CJ, Gaillard WD, Loddenkemper T, Pasupuleti A, Samanta D, Singh RK, Singhal NS, Wusthoff CJ, Wirrell EC, Yozawitz E, Knupp KG, Shellhaas RA, Grinspan ZM, Pediatric Epilepsy Research Consortium, National Infantile Spasms Consortium.   +24 more
europepmc   +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

Infantile Spasms in Remission May Reemerge as Intractable Epileptic Spasms [PDF]

, 2003
Peter Camfield, Carol Camfield, Anne Lortie, Husam Darwish   +3 more
openalex   +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