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Epilepsia
January 2025
Equine and Companion Animal Nutrition, Department of Morphology, Imaging, Orthopedics, Rehabilitation, and Nutrition, Faculty of Veterinary Medicine, Ghent University, Ghent, Belgium.
Objective: Idiopathic epilepsy (IE) is the most common chronic neurological disease in dogs and an established natural animal model for human epilepsy types with genetic and unknown etiology. However, the metabolic pathways underlying IE remain largely unknown.
Methods: Plasma samples of healthy dogs (n = 39) and dogs with IE (n = 49) were metabolically profiled (n = 121 known target metabolites) and fingerprinted (n = 1825 untargeted features) using liquid chromatography coupled to mass spectrometry.
Turk Arch Pediatr
January 2025
UCL Queen Square Institute of Neurology, London WC1N 3BG, & Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK.
Social determinants of health (SDHs) are significant and potentially modifiable drivers of neurologic diseases, including childhood epilepsy. Social determinants of health greatly influence the epidemiology, management, and outcomes associated with these conditions. Social determinants of health affect every aspect of a family's journey with epilepsy-from initial diagnosis to accessing effective treatments and ongoing care.
View Article and Find Full Text PDFJ Med Genet
January 2025
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFEpilepsia
January 2025
National Center for Epilepsy, Division of Clinical Neuroscience, full member of European Reference Network EpiCARE, Oslo University Hospital, Oslo, Norway.
Objective: This study was undertaken to describe incidence and distribution of seizures, etiologies, and epilepsy syndromes in the general child and youth population, using the current International League Against Epilepsy (ILAE) classifications.
Methods: The study platform is the Norwegian Mother, Father, and Child Cohort Study (MoBa). Epilepsy cases were identified through registry linkages facilitated by Norway's universal health care system and mandatory reporting to the Norwegian Patient Registry.
J Neurosci Res
January 2025
Department of Anaesthesiology and Intensive Care, Medical University Sofia, Sofia, Bulgaria.
The primary objective of this study was to examine neurological disorders and cognitive impairments in patients with secondary hypothyroidism and epilepsy undergoing treatment with antiepileptic medications. The study included 184 patients divided into three groups: Group 1 (subclinical hypothyroidism, n = 60), Group 2 (manifest hypothyroidism, n = 64), and Group 3 (control, n = 60). Patients in Group 2 received levothyroxine therapy (initial dose of 25 μg/day, titrated to 50-100 μg/day), while Groups 1 and 2 were treated with anti-seizure medications (valproic acid, 40 mg/kg/day).
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