The coronavirus 19 (COVID-19) disease, which was declared in China in December 2019, very early on became a pandemic, claiming more than 28 million victims worldwide to date. Its impact on the central nervous system is still poorly understood. The objective of this work is to assess the involvement of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) in the aggravation of seizures in children known to have epilepsy and in the epileptogenesis of children hitherto seizure-free. Prior to conducting this work, we had obtained informed consent from patients and parents. We report the cases of three (3) patients, one known epileptic and the other two apparently healthy, who presented a febrile seizure in a context of COVID-19 infection. The aggravation of the epileptic seizure was indicative of a SARS-CoV-2 infection in the first patient, while the seizure occurred after induction of chloroquine sulfate treatment in the 2 other patients. Although our current concern is to limit the spread of the disease to COVID-19, it is crucial to address its possible complications. Notably, the worsening of seizures in children with epilepsy and the occurrence of first seizures in children without epilepsy following drug treatment. Equipping our COVID-19 patient management facilities with electroencephalogram (EEG) equipment could facilitate continuous electroencephalographic monitoring of children for proper management.
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http://dx.doi.org/10.11604/pamj.2020.37.177.26066 | DOI Listing |
J Neurodev Disord
January 2025
Graduate Neuroscience Program, University of California, Riverside, CA, USA.
Background: Fragile X syndrome (FXS) is a leading known genetic cause of intellectual disability and autism spectrum disorders (ASD)-associated behaviors. A consistent and debilitating phenotype of FXS is auditory hypersensitivity that may lead to delayed language and high anxiety. Consistent with findings in FXS human studies, the mouse model of FXS, the Fmr1 knock out (KO) mouse, shows auditory hypersensitivity and temporal processing deficits.
View Article and Find Full Text PDFAm J Hum Genet
January 2025
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.
View Article and Find Full Text PDFEpilepsy Behav
January 2025
Department of Epileptology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Objective: This study aimed to evaluate the quality of life (QOL) in children with epilepsy and their caregivers, as well as the caregiver burden, through a secondary analysis of a cross-sectional online survey in Japan.
Methods: Eligible participants were caregivers of children (aged < 18 years) diagnosed with epilepsy. Children's QOL was measured using the daily living subset of the Japanese version of the Quality of Life in Children with Epilepsy (QOLCE-Js52).
Biomed Pharmacother
January 2025
IRCCS Stella Maris Foundation, Calambrone, via dei Giacinti 2, Pisa 56128, Italy.
Lafora disease (LD) is an ultra-rare and still incurable neurodegenerative condition. Although several therapeutic strategies are being explored, including gene therapy, there are currently no treatments that can alleviate the course of the disease and slow its progression. Recently, gliflozins, a series of SGLT2 transporter inhibitors approved for use in type 2 diabetes mellitus, heart failure and chronic kidney disease, have been proposed as possible repositioning drugs for the treatment of LD.
View Article and Find Full Text PDFJ Clin Neurophysiol
January 2025
Department of Neurology, Washington University in St Louis, St. Louis, MO.
Purpose: Continuous EEG (cEEG) monitoring is increasingly used in the management of neonates with seizures. There remains debate on what clinically relevant information can be gained from cEEG in neonates with suspected seizures, at high risk for seizures, or with definite seizures, as well as the use of cEEG for prognosis in a variety of conditions. In this guideline, we address these questions using American Clinical Neurophysiology Society structured methodology for clinical guideline development.
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