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Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

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Title: Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
Authors: Kothur K; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia., Holman K; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia., Farnsworth E; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia., Ho G; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Child & Adolescent Health; Discipline of Genetic Medicine, The University of Sydney, Sydney, Australia., Lorentzos M; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia., Troedson C; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia., Gupta S; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia., Webster R; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia., Procopis PG; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Paediatric and Child health, Camperdown, The University of Sydney, Sydney, Australia., Menezes MP; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia; Paediatric and Child health, Camperdown, The University of Sydney, Sydney, Australia., Antony J; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia., Ardern-Holmes S; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia., Dale RC; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia., Christodoulou J; Neurodevelopmental Genomics Research Group, Murdoch Children's Research Institute and Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia., Gill D; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia., Bennetts B; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Child & Adolescent Health; Discipline of Genetic Medicine, The University of Sydney, Sydney, Australia. Electronic address: bruce.bennetts@health.nsw.gov.au.
Source: Seizure [Seizure] 2018 Jul; Vol. 59, pp. 132-140. Date of Electronic Publication: 2018 May 28.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE
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  Data: Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
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  Data: <searchLink fieldCode="AU" term="%22Kothur+K%22">Kothur K</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Holman+K%22">Holman K</searchLink>; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Farnsworth+E%22">Farnsworth E</searchLink>; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Ho+G%22">Ho G</searchLink>; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Child & Adolescent Health; Discipline of Genetic Medicine, The University of Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Lorentzos+M%22">Lorentzos M</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Troedson+C%22">Troedson C</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Gupta+S%22">Gupta S</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Webster+R%22">Webster R</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Procopis+PG%22">Procopis PG</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Paediatric and Child health, Camperdown, The University of Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Menezes+MP%22">Menezes MP</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia; Paediatric and Child health, Camperdown, The University of Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Antony+J%22">Antony J</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Ardern-Holmes+S%22">Ardern-Holmes S</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Dale+RC%22">Dale RC</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Neurodevelopmental Genomics Research Group, Murdoch Children's Research Institute and Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.<br /><searchLink fieldCode="AU" term="%22Gill+D%22">Gill D</searchLink>; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Sydney, NSW, Australia; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, Sydney, NSW, Australia.<br /><searchLink fieldCode="AU" term="%22Bennetts+B%22">Bennetts B</searchLink>; Sydney Genome Diagnostics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, Australia; Discipline of Child & Adolescent Health; Discipline of Genetic Medicine, The University of Sydney, Sydney, Australia. Electronic address: bruce.bennetts@health.nsw.gov.au.
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  Data: <searchLink fieldCode="JN" term="%229306979%22">Seizure</searchLink> [Seizure] 2018 Jul; Vol. 59, pp. 132-140. <i>Date of Electronic Publication: </i>2018 May 28.
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