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Epilepsy: HELP
Articles by Kim Wager
Based on 1 article published since 2010
(Why 1 article?)
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Between 2010 and 2020, Kim Wager wrote the following article about Epilepsy.
 
+ Citations + Abstracts
1 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.