The diagnostic and prognostic value of dynamic video-electroencephalogram (V-EEG) monitoring in children with epilepsy were investigated. From February 2014 to February 2016, in total 200 children with epilepsy were selected during their stay in the First Hospital of Qinghuangdao and were randomly allocated to a dynamic and a conventional V-EEG monitoring group (n=100). The detection rate of epileptiform discharges in the two groups was evaluated. The V-EEG monitoring index was used to select treatment methods for patients with epilepsy. After 3 months, the patients were rechecked. Disease features and incidence of epilepsy were recorded. There were no significant differences in the course of disease, seizure frequency and age between the two groups (P>0.05). The detection rate of epileptiform discharges in the dynamic V-EEG was significantly higher than in the routine monitoring group (P<0.01). The accuracy and specificity of monitoring in the V-EEG were significantly higher than in the routine monitoring group (P<0.01). Seizure frequency and number of epilepsy attacks in patients in the V-EEG group were significantly lower than in the routine monitoring group (P<0.01). Dynamic V-EEG can improve epilepsy detection rate. The high accuracy and specificity of dynamic V-EEG suggest that it may be of great clinical value in the diagnosis and prognosis of epilepsy.
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http://dx.doi.org/10.3892/etm.2017.4822 | DOI Listing |
Epilepsia
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.
Mol 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.
View Article and Find Full Text PDFActa Paediatr
January 2025
Center for Chronically Sick Children, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Aim: To describe the long-term neurodevelopmental outcomes of asphyxiated neonates treated with hypothermia in association with neonatal magnetic resonance imaging (MRI) findings.
Methods: We evaluated, retrospectively, clinical and radiological single-centre data at 0, 2, and 5 years of age of 53 asphyxiated neonates born between 2005 and 2015. Neonatal cranial MRI was re-evaluated using the Weeke score ranging from 0 (normal finding) to 55 (cerebral devastation) by a single neuroradiologist blinded to patient outcomes.
Background: Children who suffer from long-term illnesses, including asthma, cystic fibrosis, diabetes, or epilepsy, sometimes struggle to manage their ailments, which affects their quality of life and how often they use healthcare services.
Objective: This study aimed to explore comprehensive long-term management strategies for children with asthma, cystic fibrosis, diabetes, and epilepsy, with a focus on enhancing quality of life and reducing hospital admissions.
Methodology: A prospective cohort research was conducted involving 480 children, divided into four groups: 120 children with asthma, 120 children with cystic fibrosis, 120 children with diabetes, and 120 children with epilepsy.
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