Results 191 to 200 of about 11,881 (273)
Quantitative Brain MRI Analysis in Neurodegenerative Langerhans Cell Histiocytosis
ABSTRACT Background Neurodegenerative Langerhans Cell Histiocytosis (ND‐LCH) is a severe central nervous system involvement complicating LCH. ND‐LCH is characterized by a cerebellar ataxia, pyramidal signs, pseudobulbar palsy, cognitive impairment, and behavioral disturbances.
Chooyoung Baek+18 more
wiley +1 more source
Navigating Surgical Challenges: Managing Juvenile Glaucoma in a Patient with Dorfman-Chanarin Syndrome. [PDF]
Anton N+4 more
europepmc +1 more source
Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder+4 more
wiley +1 more source
Overview of Neuro-Ophthalmic Findings in Leukodystrophies. [PDF]
Bettinger CM+8 more
europepmc +1 more source
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
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
Sex differences in caloric nystagmus intensity: Should reference values be updated? [PDF]
Gerb J+8 more
europepmc +1 more source
Neurosurgical management for chronic and end‐of‐life pain in children: A systematic review
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
Nystagmus in infancy: causes, characteristics and main tools for diagnosis. [PDF]
Goldman E, Hendler K, Yahalom C.
europepmc +1 more source
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