Please use this identifier to cite or link to this item: 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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