Background: Reports on pediatric electroencephalogram of Nepalese patients are rare.
Objective: We aimed to study the relationship between provisional clinical and electrophysiological diagnoses of pediatric patients with documentation of demographic profiles, and type and frequency of the disorders/diseases.
Methods: Electroencephalographic reports of 634 children from 2006 to 2009 were analyzed at neurophysiology laboratory, department of Basic and Clinical Physiology, B. P. Koirala Institute of Health Sciences, Dharan, Nepal, retrospectively. Chi-Square test was applied after detail descriptive statistics.
Results: Male and female were 72.2 % (n=458/634) and 27.76 % (n=176/634) respectively. Most frequent EEG abnormality was seizure disorder (n=370, 59.39%), then febrile seizure (n= 94, 15.08%) and birth asphyxia with hypoxic-induced encephalopathy (n=68, 10.91%). Electroencephalogram showed significant epileptiform discharges in seizure disorder (p=0.001, OR= 2.26, 95 % CI= 1.61 to 3.18) and in cerebral palsy (p=0.049, OR=6.88, 95 % CI=0.89 to 145.95), specifically in 6 to 12 (p=0.001, OR=2.94, 95 % CI=1.43 to 6.06) and one to five (p=0.019) years, respectively. Electroencephalogram detected significantly less epileptiform discharges (p=0.001, OR=0.25, 95 % CI= 0.15 to 0.42) in febrile seizure specifically in 1 to 5 years (p=0.003, OR=0.16, 95 % CI= 0.04 to 0.63).
Conclusion: Predominant Electroencephalographic abnormality was seizure disorder, followed by febrile seizure and birth asphyxia with hypoxic-induced encephalopathy respectively. Electroencephalographic abnormality was highly associated with seizure disorder and cerebral palsy but was not associated with febrile seizure.
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http://dx.doi.org/10.3126/kumj.v11i2.12484 | DOI Listing |
Epilepsia
January 2025
Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada.
Clinical practice guidelines (CPGs) and consensus-based recommendations (CBRs) require considerable effort, collaboration, and time-all within the constraints of finite resources. Professional societies, such as the International League Against Epilepsy (ILAE), must prioritize what topics and questions to address. Implementing evidence-based care remains a crucial challenge in clinical practice.
View Article and Find Full Text PDFEpilepsia
January 2025
Applied Translational Neurogenomics Group, Vlaams Instituut voor Biotechnology (VIB) Center for Molecular Neurology, VIB, Antwerp, Belgium.
Objective: This study aims to improve genetic diagnosis in childhood onset epilepsy with neurodevelopmental problems by utilizing RNA sequencing of fibroblasts to identify pathogenic variants that may be missed by exome sequencing and copy number variation analysis.
Methods: We enrolled 41 individuals with childhood onset epilepsy and neurodevelopmental problems who previously had inconclusive genetic testing. Fibroblast samples were cultured and analyzed using RNA sequencing to detect aberrant expression, aberrant splicing, and monoallelic expression using the Detection of RNA Outlier Pipeline (DROP) pipeline.
Epileptic Disord
January 2025
Child Neurology and Psychiatry Unit, Dipartimento materno-infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
Neurosurgery
January 2025
Department of Biomedical Sciences, Humanitas University, Milan, Italy.
Background And Objectives: Understanding and managing seizure activity is crucial in neuro-oncology, especially for highly epileptogenic lesions like isocitrate dehydrogenase (IDH)-mutant gliomas. Advanced MRI techniques such as diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI) have been used to describe microstructural changes associated with epilepsy. However, their role in tumor-related epilepsy (TRE) remains unclear.
View Article and Find Full Text PDFMol Genet Genomic Med
February 2025
Department of Chemistry and Molecular Biology, Gothenburg University, Gothenburg, Sweden.
Background: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the features of autism spectrum disorder. The aim of this study was to identify a novel SYNGAP1 gene variant linked to neurodevelopmental disorders and to evaluate the pathogenicity of the detected variant.
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