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Epilepsy: HELP
Articles by Jonathan D. Cooper
Based on 3 articles published since 2010
(Why 3 articles?)

Between 2010 and 2020, Jonathan D. Cooper wrote the following 3 articles about Epilepsy.
+ Citations + Abstracts
1 Article Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. 2016

Fietz, Michael / AlSayed, Moeenaldeen / Burke, Derek / Cohen-Pfeffer, Jessica / Cooper, Jonathan D / Dvořáková, Lenka / Giugliani, Roberto / Izzo, Emanuela / Jahnová, Helena / Lukacs, Zoltan / Mole, Sara E / Noher de Halac, Ines / Pearce, David A / Poupetova, Helena / Schulz, Angela / Specchio, Nicola / Xin, Winnie / Miller, Nicole. ·Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, Nedlands, Australia. · Department of Medical Genetics, Alfaisal University, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. · Chemical Pathology, Camelia Botnar Laboratories, Great Ormond Street Hospital, London, UK. · BioMarin Pharmaceutical Inc., Novato, CA, USA. · Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK. · Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague, General University Hospital in Prague, Prague, Czech Republic. · Medical Genetics Service, HCPA, Department of Genetics, UFRGS, INAGEMP, Porto Alegre, Brazil. · Newborn Screening and Metabolic Diagnostics Unit, Hamburg University Medical Center, Hamburg, Germany. · MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health, University College London, London, UK. · Facultad de Ciencias Médicas, Universidad Nacional de Córdoba and National Research Council-CONICET, Córdoba, Argentina. · Sanford Children's Health Research Center, Sioux Falls, SD, USA. · Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. · Department of Neuroscience, Bambino Gesù Children's Hospital, Rome, Italy. · Neurogenetics DNA Diagnostic Laboratory, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. · BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: NMiller@bmrn.com. ·Mol Genet Metab · Pubmed #27553878.

ABSTRACT: Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal ceroid lipofuscinosis type 2 (CLN2) disease, caused by mutations in the tripeptidyl peptidase 1 (TPP1)/CLN2 gene and the resulting TPP1 enzyme deficiency. CLN2 disease most commonly presents with seizures and/or ataxia in the late-infantile period (ages 2-4), often in combination with a history of language delay, followed by progressive childhood dementia, motor and visual deterioration, and early death. Atypical phenotypes are characterized by later onset and, in some instances, longer life expectancies. Early diagnosis is important to optimize clinical care and improve outcomes; however, currently, delays in diagnosis are common due to low disease awareness, nonspecific clinical presentation, and limited access to diagnostic testing in some regions. In May 2015, international experts met to recommend best laboratory practices for early diagnosis of CLN2 disease. When clinical signs suggest an NCL, TPP1 enzyme activity should be among the first tests performed (together with the palmitoyl-protein thioesterase enzyme activity assay to rule out CLN1 disease). However, reaching an initial suspicion of an NCL or CLN2 disease can be challenging; thus, use of an epilepsy gene panel for investigation of unexplained seizures in the late-infantile/childhood ages is encouraged. To confirm clinical suspicion of CLN2 disease, the recommended gold standard for laboratory diagnosis is demonstration of deficient TPP1 enzyme activity (in leukocytes, fibroblasts, or dried blood spots) and the identification of causative mutations in each allele of the TPP1/CLN2 gene. When it is not possible to perform both analyses, either demonstration of a) deficient TPP1 enzyme activity in leukocytes or fibroblasts, or b) detection of two pathogenic mutations in trans is diagnostic for CLN2 disease.

2 Article Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease). 2016

Wager, Kim / Zdebik, Anselm A / Fu, Sonia / Cooper, Jonathan D / Harvey, Robert J / Russell, Claire. ·Department of Comparative Biomedical Sciences, Royal Veterinary College, Royal College Street, London, NW1 0TU, United Kingdom. · Department of Neuroscience, Physiology and Pharmacology, UCL Medical School, Royal Free Campus, Rowland Hill Street, London, NW3 2PF, United Kingdom. · Department of Nephrology, UCL Medical School, Royal Free Campus, Rowland Hill Street, London, NW3 2PF, United Kingdom. · Pediatric Storage Disorders Laboratory, Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology & Neuroscience, King's College London, 5 Cutcombe Road, London, SE5 9RX, United Kingdom. · Department of Pharmacology, UCL School of Pharmacy, 29-39 Brunswick Square, London, WC1N 1AX, United Kingdom. ·PLoS One · Pubmed #27327661.

ABSTRACT: The neuronal ceroid lipofuscinoses are a group of lysosomal storage disorders that comprise the most common, genetically heterogeneous, fatal neurodegenerative disorders of children. They are characterised by childhood onset, visual failure, epileptic seizures, psychomotor retardation and dementia. CLN3 disease, also known as Batten disease, is caused by autosomal recessive mutations in the CLN3 gene, 80-85% of which are a ~1 kb deletion. Currently no treatments exist, and after much suffering, the disease inevitably results in premature death. The aim of this study was to generate a zebrafish model of CLN3 disease using antisense morpholino injection, and characterise the pathological and functional consequences of Cln3 deficiency, thereby providing a tool for future drug discovery. The model was shown to faithfully recapitulate the pathological signs of CLN3 disease, including reduced survival, neuronal loss, retinopathy, axonopathy, loss of motor function, lysosomal storage of subunit c of mitochondrial ATP synthase, and epileptic seizures, albeit with an earlier onset and faster progression than the human disease. Our study provides proof of principle that the advantages of the zebrafish over other model systems can be utilised to further our understanding of the pathogenesis of CLN3 disease and accelerate drug discovery.

3 Article Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1. 2012

Tegelberg, Saara / Kopra, Outi / Joensuu, Tarja / Cooper, Jonathan D / Lehesjoki, Anna-Elina. ·Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland. ·J Neuropathol Exp Neurol · Pubmed #22157618.

ABSTRACT: Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) is a hereditary neurodegenerative disorder caused by mutations in the cystatin B (CSTB) gene encoding an inhibitor of cysteine proteases. Here, we provide the first detailed description of the onset and progression of pathologic changes in the CNS of Cstb-deficient (Cstb) mice. Our data reveal early and localized glial activation in brain regions where neuron loss subsequently occurs. These changes are most pronounced in the thalamocortical system, with neuron loss occurring first within the cortex and only subsequently in the corresponding thalamic relay nucleus. Microglial activation precedes the emergence of myoclonia and is followed by successive astrocytosis and selective neuron loss. Neuron loss was not detected in thalamic relay nuclei that displayed no glial activation. Microglia showed morphologic changes during disease progression from that of phagocytic brain macrophages in young animals to having thickened branched processes in older animals. These novel data on the timing of pathologic events in the CSTB-deficient brain highlight the potential role of glial activation at the initial stages of the disease. Determining the precise sequence of the neurodegenerative events in Cstb mouse brains will lay the basis for understanding the pathophysiology of EPM1.