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|Title:||ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.||Austin Authors:||Zuberi, Sameer M;Wirrell, Elaine;Yozawitz, Elissa;Wilmshurst, Jo M;Specchio, Nicola;Riney, Kate;Pressler, Ronit;Auvin, Stephane;Samia, Pauline;Hirsch, Edouard;Galicchio, Santiago;Triki, Chahnez;Snead, O Carter;Wiebe, Samuel;Cross, J Helen;Tinuper, Paolo;Scheffer, Ingrid E ;Perucca, Emilio;Moshé, Solomon L;Nabbout, Rima||Affiliation:||Royal Children's Hospital, and Murdoch Children's Research Institute, University of Melbourne, Melbourne, Victoria, Australia..
The Florey Institute of Neuroscience and Mental Health
Paediatric Neurosciences Research Group, Royal Hospital for Children, Institute of Health & Wellbeing, Collaborating Centre of European Reference Network EpiCARE, University of Glasgow, Glasgow, UK..
Divisions of Child and Adolescent Neurology and Epilepsy, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA..
Isabelle Rapin Division of Child Neurology, Saul R. Korey Department of Neurology, Montefiore Medical Center, Bronx, New York, USA..
Department of Paediatric Neurology, Red Cross War Memorial Children's Hospital, Neuroscience Institute, University of Cape Town, Cape Town, South Africa..
Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesu' Children's Hospital, IRCCS, Member of European Reference Network EpiCARE, Rome, Italy..
Neurosciences Unit, Queensland Children's Hospital, South Brisbane, Queensland, Australia..
Faculty of Medicine, University of Queensland, St Lucia, Queensland, Australia..
Clinical Neuroscience, UCL- Great Ormond Street Institute of Child Health, London, UK..
Department of Clinical Neurophysiology, Great Ormond Street Hospital for Children NHS Foundation Trust, Member of European Reference Network EpiCARE, London, UK..
AP-HP, Hôpital Robert-Debré, INSERM NeuroDiderot, DMU Innov-RDB, Neurologie Pédiatrique, Member of European Reference Network EpiCARE, Université de Paris, Paris, France..
Department of Paediatrics and Child Health, Aga Khan University, Nairobi, Kenya..
Neurology Epilepsy Unit "Francis Rohmer", INSERM 1258, FMTS, Strasbourg University, Strasbourg, France..
Child Neurology Department, Victor J Vilela Child Hospital of Rosario, Santa Fe, Argentina..
Child Neurology Department, LR19ES15 Neuropédiatrie, Sfax Medical School, University of Sfax, Sfax, Tunisia..
Pediatric Neurology, Hospital for Sick Children, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada..
Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada..
Programme of Developmental Neurosciences, UCL NIHR BRC Great Ormond Street Institute of Child Health, Great Ormond Street Hospital for Children, Member of European Reference Network EpiCARE, London, UK..
Young Epilepsy, Lingfield, UK..
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy..
IRCCS Istituto delle Scienze Neurologiche, Bologna, Italy..
Department of Neuroscience, Monash University, Melbourne, Victoria, Australia..
Medicine (University of Melbourne)
Isabelle Rapin Division of Child Neurology, Saul R. Korey Department of Neurology, Bronx, New York, USA..
Departments of Neuroscience and Pediatrics, Albert Einstein College of Medicine, Bronx, New York, USA..
Montefiore Medical Center, Bronx, New York, USA..
Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker-Enfants Malades University Hospital, APHP, Member of European Reference Network EpiCARE, Institut Imagine, INSERM, UMR 1163, Université Paris cité, Paris, France..
|Issue Date:||Jun-2022||metadata.dc.date:||2022||Publication information:||Epilepsia 2022; 63(6): 1349-1397||Abstract:||The International League Against Epilepsy (ILAE) Task Force on Nosology and Definitions proposes a classification and definition of epilepsy syndromes in the neonate and infant with seizure onset up to 2 years of age. The incidence of epilepsy is high in this age group and epilepsy is frequently associated with significant comorbidities and mortality. The licensing of syndrome specific antiseizure medications following randomized controlled trials and the development of precision, gene-related therapies are two of the drivers defining the electroclinical phenotypes of syndromes with onset in infancy. The principal aim of this proposal, consistent with the 2017 ILAE Classification of the Epilepsies, is to support epilepsy diagnosis and emphasize the importance of classifying epilepsy in an individual both by syndrome and etiology. For each syndrome, we report epidemiology, clinical course, seizure types, electroencephalography (EEG), neuroimaging, genetics, and differential diagnosis. Syndromes are separated into self-limited syndromes, where there is likely to be spontaneous remission and developmental and epileptic encephalopathies, diseases where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. The emerging class of etiology-specific epilepsy syndromes, where there is a specific etiology for the epilepsy that is associated with a clearly defined, relatively uniform, and distinct clinical phenotype in most affected individuals as well as consistent EEG, neuroimaging, and/or genetic correlates, is presented. The number of etiology-defined syndromes will continue to increase, and these newly described syndromes will in time be incorporated into this classification. The tables summarize mandatory features, cautionary alerts, and exclusionary features for the common syndromes. Guidance is given on the criteria for syndrome diagnosis in resource-limited regions where laboratory confirmation, including EEG, MRI, and genetic testing, might not be available.||URI:||https://ahro.austin.org.au/austinjspui/handle/1/30344||DOI:||10.1111/epi.17239||ORCID:||https://orcid.org/0000-0003-3015-8282
|Journal:||Epilepsia||PubMed URL:||35503712||PubMed URL:||https://pubmed.ncbi.nlm.nih.gov/35503712/||Type:||Journal Article||Subjects:||Dravet syndrome
developmental and epileptic encephalopathy
epilepsy of infancy with migrating focal seizures
|Appears in Collections:||Journal articles|
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