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Background: Advances in neuroimaging technology have identified epilepsy as a disorder of brain network dysfunction. Previous research has confirmed alterations in the brain functional network of patients with juvenile myoclonic epilepsy (JME). However, studies investigating brain network changes in JME patients under different intervention conditions remain scarce.
Methods: The manuscript included 32 JME patients who met the ILAE diagnostic criteria, and 36 long-term video EEG records were collected and analyzed. Patients were classified into three groups according to their drug treatment status and reaction: the drug-naive group, the seizure-free group and the poor-controlled group. Based on the brain networks derived from electroencephalogram (EEG) data, network analysis, equivalent dipole source location analysis and Mendelian randomization analysis were conducted. Multiple hypothesis T-Tests were used to assess the difference in various indicators of brain networks enriched for strong functional connectivity (ρ > 0.7) between different patient groups.
Results: Significant differences were found in brain network diameter, shortest path length, transmissibility, and subgroup count between the drug-naïve and seizure-free groups. In contrast, no differences were detected between the drug-naïve and poor-controlled groups. K-means clustering achieved 89 % specificity and 83 % sensitivity in classifying JME patients.
Conclusion: (1) The topological characteristics of brain networks show significant associations with clinical symptom severity in JME patients, demonstrating their value as potential biomarkers for monitoring treatment response. (2) While group-specific variations exist, the overall brain network topology remains indistinguishable across all JME patients, indicating a stable disease-related reorganization. (3) Observed hemispheric lateralization in brain network topology highlights potential targets for neuromodulatory interventions.
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http://dx.doi.org/10.1016/j.seizure.2025.07.006 | DOI Listing |
Genome Biol
September 2025
Department of Evolutionary Genetics, Max-Planck Institute for Evolutionary Biology, Plön, Germany.
Background: Most RNA-seq datasets harbor genes with extreme expression levels in some samples. Such extreme outliers are usually treated as technical errors and are removed from the data before further statistical analysis. Here we focus on the patterns of such outlier gene expression to investigate whether they provide insights into the underlying biology.
View Article and Find Full Text PDFNat Aging
September 2025
Department of Clinical Molecular Biology, University of Oslo and Akershus University Hospital, Lørenskog, Norway.
Beyond their classical functions as redox cofactors, recent fundamental and clinical research has expanded our understanding of the diverse roles of nicotinamide adenine dinucleotide (NAD) and nicotinamide adenine dinucleotide phosphate (NADP) in signaling pathways, epigenetic regulation and energy homeostasis. Moreover, NAD and NADP influence numerous diseases as well as the processes of aging, and are emerging as targets for clinical intervention. Here, we summarize safety, bioavailability and efficacy data from NAD-related clinical trials, focusing on aging and neurodegenerative diseases.
View Article and Find Full Text PDFNat Genet
September 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Despite advances in genomic diagnostics, the majority of individuals with rare diseases remain without a confirmed genetic diagnosis. The rapid emergence of advanced omics technologies, such as long-read genome sequencing, optical genome mapping and multiomic profiling, has improved diagnostic yield but also substantially increased analytical and interpretational complexity. Addressing this complexity requires systematic multidisciplinary collaboration, as recently demonstrated by targeted diagnostic workshops.
View Article and Find Full Text PDFGeroscience
September 2025
Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA.
Cognitive decline is common in multiple sclerosis (MS), although neural mechanisms are not fully understood. The objective was to investigate the impact of mild cognitive impairment (MCI) on the relationship between resting state functional connectivity (RSFC) and cognitive function in older adults with multiple sclerosis (OAMS) and age matched healthy controls. Participants underwent magnetic resonance imaging (MRI) scans and cognitive assessments.
View Article and Find Full Text PDFNat Commun
September 2025
Institute of Neurosciences and Medicine, Brain & Behaviour (INM-7), Research Centre Juelich; Wilhelm-Johnen-Straße 1, Juelich, Germany.
Autism is a neurodevelopmental condition associated with altered resting-state brain function. An increased excitation-inhibition ratio is discussed as a pathomechanism but in-vivo evidence of disturbed neurotransmission underlying functional alterations remains scarce. We compare local resting-state brain activity and neurotransmitter co-localizations between autism (N = 405, N = 395) and neurotypical controls (N = 473, N = 474) in two independent cohorts and correlate them with excitation-inhibition changes induced by glutamatergic (ketamine) and GABAergic (midazolam) medication.
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