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
Database: MEDLINE Ultimate
Description
ISSN:1532-2688
DOI:10.1016/j.seizure.2018.05.005