Results 171 to 180 of about 56,505 (288)
Utilization of adjunctive anti-seizure medications to facilitate chronic benzodiazepine discontinuation. [PDF]
Dueno MR, Howington GT, Ryan M.
europepmc +1 more source
A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren +5 more
wiley +1 more source
Cancer pain: current practice and emerging targets
Cancer pain (CP) arises from a complex interplay between the tumour and its microenvironment. Many patients experience a mixed pain phenotype that encompasses nociceptive, neuropathic and neuroinflammatory mechanisms, and vary across tumour type and disease stage. Despite decades of intensive research, the mainstay of cancer pain treatment is still non‐
Yi Ye +5 more
wiley +1 more source
ABSTRACT Background This trial aimed to evaluate the efficacy of oral acetazolamide in reducing cystoid fluid collections (CFC) and improving visual function in patients with X‐linked retinoschisis (XLRS). Methods In this investigator‐initiated, single centre, open‐label, randomised controlled trial, XLRS patients aged ≥ 12 years with fovea‐involving ...
Jonathan Hensman +15 more
wiley +1 more source
Abstract Aim To map existing evidence on neuropathic pain in cerebral palsy (CP) and related genetic conditions, including prevalence, descriptors, assessment methods, and management. Method Following prospective registration, five databases (Ovid MEDLINE, Embase, CINAHL, Web of Science, Google Scholar) were searched in June 2025.
Aayushi Khillan +8 more
wiley +1 more source
Maternal and umbilical cord plasma concentrations of antiseizure medications: Results from the observational MONEAD study. [PDF]
Avachat C +4 more
europepmc +1 more source
Genetic testing in paediatric neurological disorders
In this study 390 paediatric patients with neurological disorders underwent genetic testing via exome sequencing, commercial panel, in‐house epilepsy, and movement disorder gene panels. Exome sequencing provides the highest diagnostic yield, and severe developmental delay and hypotonia predicted pathogenic variants in the exome sequencing cohort ...
Wafa Bani Uraba +15 more
wiley +1 more source
Low Frequency of HLA-B*15:02 in Northwest China: Implications for Carbamazepine-Induced Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Screening Strategies. [PDF]
Wang X +11 more
europepmc +1 more source
This review integrates emerging evidence on the pathophysiology of D/EE‐SWAS, highlighting the role of disrupted sleep homeostasis and thalamocortical network dysfunction. We propose a clinically applicable diagnostic framework that combines sleep EEG, structural imaging, genomic testing and longitudinal neuropsychological assessment to improve ...
Aysha Rasheed +7 more
wiley +1 more source

