Results 251 to 260 of about 103,722 (368)

Updated classification of epileptic seizures: Position paper of the International League Against Epilepsy

open access: yesEpilepsia, Volume 66, Issue 6, Page 1804-1823, June 2025.
Abstract The International League Against Epilepsy (ILAE) has updated the operational classification of epileptic seizures, building upon the framework established in 2017. This revision, informed by the implementation experience, involved a working group appointed by the ILAE Executive Committee.
Sándor Beniczky   +43 more
wiley   +1 more source

Simplifying the Diagnosis of Pediatric Nystagmus with Fundus Photography. [PDF]

open access: yesChildren (Basel)
Cohen-Sinai N   +6 more
europepmc   +1 more source

Potassium current inactivation as a novel pathomechanism for KCNQ2 developmental and epileptic encephalopathy

open access: yesEpilepsia, Volume 66, Issue 6, Page e98-e105, June 2025.
Abstract De novo variants in KCNQ2 cause neonatal onset developmental and epileptic encephalopathy (KCNQ2‐DEE; Online Mendelian Inheritance in Man #613720), most often by loss‐of‐function in vitro effects. In this study, we describe a neonatal onset DEE proband carrying a recurrent de novo KCNQ2 variant (c.794C>T; p.A265V) affecting the pore domain of ...
Ingride Luzio Gaspar   +6 more
wiley   +1 more source

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

open access: yesEuropean Journal of Human Genetics, 2013
Shery Thomas   +8 more
semanticscholar   +1 more source

Neurosurgical management for chronic and end‐of‐life pain in children: A systematic review

open access: yesPain Practice, Volume 25, Issue 5, June 2025.
Abstract Introduction Chronic and end‐of‐life pain in children is underreported and undermanaged. Current guidelines for pediatric chronic pain include medical and interventional modalities; however, the inclusion of neurosurgical treatments is uncommon and inconsistent. This systematic review presents the literature, and we provide recommendations for
Sunny Abdelmageed   +7 more
wiley   +1 more source

Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome. [PDF]

open access: yesInvest Ophthalmol Vis Sci
Gong X   +7 more
europepmc   +1 more source

Scrub typhus‐associated movement and gait disorders: A systematic review with principal component analysis and in silico mechanistic modelling

open access: yesTropical Medicine &International Health, Volume 30, Issue 6, Page 459-480, June 2025.
Abstract Background Orientia tsutsugamushi, the causative agent of scrub typhus, is increasingly recognised for its neurological complications. Among these, movement and gait disorders are poorly understood. We systematically examined their clinical spectrum and explored underlying mechanisms through in‐silico protein–protein interaction modelling ...
Ritwick Mondal   +9 more
wiley   +1 more source

Home - About - Disclaimer - Privacy