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https://ahro.austin.org.au/austinjspui/handle/1/32174| Title: | WWOX Developmental and Epileptic Encephalopathy (WWOX-DEE): understanding the epileptology and the mortality risk. | Austin Authors: | Oliver, Karen L;Trivisano, Marina;Mandelstam, Simone A;De Dominicis, Angela;Francis, David I;Green, Timothy E;Muir, Alison M;Chowdhary, Apoorva;Hertzberg, Christoph;Goldhahn, Klaus;Metreau, Julia;Prager, Christine;Pinner, Jason;Cardamone, Michael;Myers, Kenneth A;Leventer, Richard J;Lesca, Gaetan;Bahlo, Melanie;Hildebrand, Michael S ;Mefford, Heather C;Kaindl, Angela M;Specchio, Nicola;Scheffer, Ingrid E | Affiliation: | Epilepsy Research Centre Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Full Member of European Reference Network EpiCARE, 00165, Rome, Italy. Department of Paediatrics, University of Melbourne, Melbourne, Australia. Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Full Member of European Reference Network EpiCARE, 00165, Rome, Italy. Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia. Department of Pediatrics, University of Washington, Seattle, WA, United States. Zentrum für Sozialpädiatrie und Neuropädiatrie (DBZ), Vivantes Hospital Neukoelln, Berlin, Germany. Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany. Department of Pediatric Neurology, Hôpital Bicêtre, Assistance Publique Hopitaux de Paris, Le Kremlin Bicêtre, France. Center for Chronically Sick Children (SPZ), Charité-Universitätsmedizin Berlin, 13353, Berlin, Germany. Sydney Children's Hospital, Randwick, New South Wales, Australia. Division of Child Neurology, Department of Pediatrics, McGill University, Quebec, Canada. Department of Medical Genetics, Lyon University Hospital, Université Claude Bernard Lyon 1, Member of the ERN EpiCARE, Lyon, France. Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia. The Florey Institute of Neuroscience and Mental Health |
Issue Date: | May-2023 | Date: | 2023 | Publication information: | Epilepsia 2023-05; 64(5) | Abstract: | WWOX 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. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/32174 | DOI: | 10.1111/epi.17542 | ORCID: | 0000-0001-5188-6153 0000-0002-5113-2199 0000-0001-7831-4593 0000-0001-7691-9492 0000-0001-5132-0774 0000-0001-9454-206X 0000-0002-8120-0287 0000-0002-2311-2174 |
Journal: | Epilepsia | PubMed URL: | 36779245 | PubMed URL: | https://pubmed.ncbi.nlm.nih.gov/36779245/ | ISSN: | 1528-1167 | Type: | Journal Article | Subjects: | EIDEE WWOX early-infantile developmental and epileptic encephalopathy epileptic spasms genotype-phenotype correlation survival probability |
| Appears in Collections: | Journal articles |
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