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Tremor as an intrinsic feature of juvenile myoclonic epilepsy.
Epilepsia
January 2025
Department of Medical Sciences, Institute of Neurology, Magna Græcia University, Catanzaro, Italy.
We aim to understand whether tremor may be an intrinsic feature of juvenile myoclonic epilepsy (JME) and whether individuals with JME plus tremor experience a different disease course. Thirty-one individuals with JME plus tremor (17 females, mean age = 33.9 ± 13.
View Article and Find Full Text PDFNeuroprotective and inflammatory biomarkers in pediatric drug-resistant epilepsy: Interplay between GDNF, IL-1β and vitamin D 25-OH.
Narra J
December 2024
Department of Clinical Pathology, Faculty of Medicine, Universitas Imelda, Medan, Indonesia.
Drug-resistant epilepsy in pediatric patients is associated with neuroinflammation and neurodegeneration. Vitamin D 25-OH exerts neuroprotective effects, while glial cell line- derived neurotrophic factor (GDNF) and the proinflammatory cytokine interleukin-1β (IL-1β) are implicated in the mechanisms of neuroinflammation and epileptogenesis. The aim of this study was to investigate the relationship between vitamin D 25-OH, IL-1β, and GDNF levels with seizure severity and frequency in children with drug-resistant epilepsy.
View Article and Find Full Text PDFVPS13D-related disorders: a severe case, review, and genotype-phenotype correlation.
Neurocase
January 2025
Department of Ophthalmology, Affiliated Hospital of Guizhou Medical University, Guiyang, P.R. China.
Background: -related disorders are autosomal recessive genetic disorders characterized by movement disorders primarily including ataxia and spasticity, mainly accompanying developmental delay, seizures, and neuroimaging abnormalities. -related spectrum disorder (VSD) may better reflect the characteristics of the disease. So far, the relationship of genotype and phenotype of VSD has not been established.
View Article and Find Full Text PDFGlycogen synthase kinase-3ß inhibitor use and prostate cancer incidence in Manitoba, Canada: A population-based nested case-control study.
Cancer Epidemiol
January 2025
Vaccine and Drug Evaluation Centre, Department of Community Health Sciences, University of Manitoba, S108-750 Bannatyne Avenue, Winnipeg, MB R3E 0W2, Canada; College of Pharmacy, University of Manitoba, 750 McDermot Avenue, Winnipeg, MB R3E 0T5, Canada.
Background: Little is known on the effect of glycogen synthase kinase-3ß inhibitors (GSK3Is), as a class, on prostate cancer (PC). We aimed to study this in the Canadian province of Manitoba, because mixed results have been reported on the effect of valproate.
Methods: We conducted a nested case-control study among cancer-free Manitobans with ≥ 5 years of medical history in which we matched all men 40 years or older diagnosed with PC between 2000 and 2018 (N = 11,189) on period, age, length of available drug information to cancer-free controls (N = 55,728).
Child Neurology: Severe -Related Congenital Muscular Dystrophy With Rapidly Progressive Encephalopathy Leading to Infantile Death.
Neurology
February 2025
Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
Pathogenic variants in cause congenital muscular dystrophy through hypoglycosylation of alpha-dystroglycan (OMIM #615350). The established phenotypic spectrum of GMPPB-related disorders includes recurrent rhabdomyolysis, limb-girdle muscular dystrophy, neuromuscular transmission abnormalities, and congenital muscular dystrophy with variable brain and eye anomalies. We report a 9-month-old male infant with congenital muscular dystrophy, infantile spasms, and compound heterozygous pathogenic variants (c.
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