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Association of Sleep Spindle Rate With Memory Consolidation in Children With Rolandic Epilepsy.
Neurology
January 2025
Department of Neurology, Massachusetts General Hospital, Boston.
Background And Objectives: Rolandic epilepsy (RE), the most common childhood focal epilepsy syndrome, is characterized by a transient period of sleep-activated epileptiform activity in the centrotemporal regions and variable cognitive deficits. Sleep spindles are prominent thalamocortical brain oscillations during sleep that have been mechanistically linked to sleep-dependent memory consolidation in animal models and healthy controls. Sleep spindles are decreased in RE and related sleep-activated epileptic encephalopathies.
View Article and Find Full Text PDFMovement Disorders and Smart Wrist Devices: A Comprehensive Study.
Sensors (Basel)
January 2025
National Research Council of Italy, Institute for Microelectronics and Microsystems, 73100 Lecce, Italy.
In the medical field, there are several very different movement disorders, such as tremors, Parkinson's disease, or Huntington's disease. A wide range of motor and non-motor symptoms characterizes them. It is evident that in the modern era, the use of smart wrist devices, such as smartwatches, wristbands, and smart bracelets is spreading among all categories of people.
View Article and Find Full Text PDFFucosidosis: A Review of a Rare Disease.
Int J Mol Sci
January 2025
Department of Molecular Biology and Genetics, Çanakkale Onsekiz Mart University, Çanakkale 17100, Turkey.
Fucosidosis is a rare lysosomal storage disease caused by α-L-fucosidase deficiency following a mutation in the gene. This enzyme is responsible for breaking down fucose-containing glycoproteins, glycolipids, and oligosaccharides within the lysosome. Mutations in result in either reduced enzyme activity or complete loss of function, leading to the accumulation of fucose-rich substrates in lysosomes.
View Article and Find Full Text PDFGanaxolone: A Review in Epileptic Seizures Associated with Cyclin-Dependent Kinase-Like 5 Deficiency Disorder.
Paediatr Drugs
January 2025
Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.
Oral ganaxolone (ZTALMY), a synthetic analogue of the endogenous neuroactive steroid allopregnanolone, acts as a positive allosteric modulator of synaptic and extra-synaptic γ-aminobutyric acid (GABA) type A receptor function in the CNS. In the EU and the UK, it is approved for the adjunctive treatment of epileptic seizures associated with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) in patients aged 2-17 years. In a multinational phase III study (Marigold), 17 weeks' therapy with adjunctive ganaxolone, administered orally three times daily with food, significantly reduced 28-day major motor seizure frequency from baseline versus placebo in patients aged 2-19 years with CDD-associated refractory epilepsy.
View Article and Find Full Text PDFReconstruction and application of multilayer brain network for juvenile myoclonic epilepsy based on link prediction.
Cogn Neurodyn
December 2025
Department of Nuclear Magnetic Resonance, Lanzhou University Second Hospital, Lanzhou, 730030 China.
Unlabelled: Juvenile myoclonic epilepsy (JME) exhibits abnormal functional connectivity of brain networks at multiple frequencies. We used the multilayer network model to address the heterogeneous features at different frequencies and assess the mechanisms of functional integration and segregation of brain networks in JME patients. To address the possibility of false edges or missing edges during network construction, we combined multilayer networks with link prediction techniques.
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