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Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/32174
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dc.contributor.authorOliver, Karen L-
dc.contributor.authorTrivisano, Marina-
dc.contributor.authorMandelstam, Simone A-
dc.contributor.authorDe Dominicis, Angela-
dc.contributor.authorFrancis, David I-
dc.contributor.authorGreen, Timothy E-
dc.contributor.authorMuir, Alison M-
dc.contributor.authorChowdhary, Apoorva-
dc.contributor.authorHertzberg, Christoph-
dc.contributor.authorGoldhahn, Klaus-
dc.contributor.authorMetreau, Julia-
dc.contributor.authorPrager, Christine-
dc.contributor.authorPinner, Jason-
dc.contributor.authorCardamone, Michael-
dc.contributor.authorMyers, Kenneth A-
dc.contributor.authorLeventer, Richard J-
dc.contributor.authorLesca, Gaetan-
dc.contributor.authorBahlo, Melanie-
dc.contributor.authorHildebrand, Michael S-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorKaindl, Angela M-
dc.contributor.authorSpecchio, Nicola-
dc.contributor.authorScheffer, Ingrid E-
dc.date2023-
dc.date.accessioned2023-02-21T23:53:53Z-
dc.date.available2023-02-21T23:53:53Z-
dc.date.issued2023-05-
dc.identifier.citationEpilepsia 2023-05; 64(5)en_US
dc.identifier.issn1528-1167-
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/32174-
dc.description.abstractWWOX is an autosomal recessive cause of early infantile developmental and epileptic encephalopathy (WWOX-DEE), also known as WOREE (WWOX-related epileptic encephalopathy). We analysed the epileptology and imaging features of WWOX-DEE, and investigated genotype-phenotype correlations, particularly with regards to survival.en_US
dc.language.isoeng-
dc.subjectEIDEEen_US
dc.subjectWWOXen_US
dc.subjectearly-infantile developmental and epileptic encephalopathyen_US
dc.subjectepileptic spasmsen_US
dc.subjectgenotype-phenotype correlationen_US
dc.subjectsurvival probabilityen_US
dc.titleWWOX Developmental and Epileptic Encephalopathy (WWOX-DEE): understanding the epileptology and the mortality risk.en_US
dc.typeJournal Articleen_US
dc.identifier.journaltitleEpilepsiaen_US
dc.identifier.affiliationEpilepsy Research Centreen_US
dc.identifier.affiliationRare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Full Member of European Reference Network EpiCARE, 00165, Rome, Italy.en_US
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Melbourne, Australia.en_US
dc.identifier.affiliationRare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Full Member of European Reference Network EpiCARE, 00165, Rome, Italy.en_US
dc.identifier.affiliationVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.en_US
dc.identifier.affiliationDepartment of Pediatrics, University of Washington, Seattle, WA, United States.en_US
dc.identifier.affiliationZentrum für Sozialpädiatrie und Neuropädiatrie (DBZ), Vivantes Hospital Neukoelln, Berlin, Germany.en_US
dc.identifier.affiliationDepartment of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany.en_US
dc.identifier.affiliationDepartment of Pediatric Neurology, Hôpital Bicêtre, Assistance Publique Hopitaux de Paris, Le Kremlin Bicêtre, France.en_US
dc.identifier.affiliationCenter for Chronically Sick Children (SPZ), Charité-Universitätsmedizin Berlin, 13353, Berlin, Germany.en_US
dc.identifier.affiliationSydney Children's Hospital, Randwick, New South Wales, Australia.en_US
dc.identifier.affiliationDivision of Child Neurology, Department of Pediatrics, McGill University, Quebec, Canada.en_US
dc.identifier.affiliationDepartment of Medical Genetics, Lyon University Hospital, Université Claude Bernard Lyon 1, Member of the ERN EpiCARE, Lyon, France.en_US
dc.identifier.affiliationPopulation Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.en_US
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Healthen_US
dc.identifier.pubmedurihttps://pubmed.ncbi.nlm.nih.gov/36779245/en_US
dc.identifier.doi10.1111/epi.17542en_US
dc.type.contentTexten_US
dc.identifier.orcid0000-0001-5188-6153en_US
dc.identifier.orcid0000-0002-5113-2199en_US
dc.identifier.orcid0000-0001-7831-4593en_US
dc.identifier.orcid0000-0001-7691-9492en_US
dc.identifier.orcid0000-0001-5132-0774en_US
dc.identifier.orcid0000-0001-9454-206Xen_US
dc.identifier.orcid0000-0002-8120-0287en_US
dc.identifier.orcid0000-0002-2311-2174en_US
dc.identifier.pubmedid36779245-
local.name.researcherHildebrand, Michael S
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.cerifentitytypePublications-
item.openairetypeJournal Article-
item.languageiso639-1en-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptMedicine (University of Melbourne)-
crisitem.author.deptEpilepsy Research Centre-
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