Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/25678
Title: The severe epilepsy syndromes of infancy: A population-based study.
Austin Authors: Howell, Katherine B;Freeman, Jeremy L;Mackay, Mark T;Fahey, Michael C;Archer, John S ;Berkovic, Samuel F ;Chan, Eunice;Dabscheck, Gabriel;Eggers, Stefanie;Hayman, Michael;Holberton, James;Hunt, Rodney W;Jacobs, Susan E;Kornberg, Andrew J;Leventer, Richard J;Mandelstam, Simone;McMahon, Jacinta M;Mefford, Heather C;Panetta, Julie;Riseley, Jessica;Rodriguez-Casero, Victoria;Ryan, Monique M;Schneider, Amy L ;Smith, Lindsay J;Stark, Zornitza;Wong, Flora;Yiu, Eppie M;Scheffer, Ingrid E ;Harvey, A Simon
Affiliation: Department of Neurology, Royal Children's Hospital, Melbourne, Vic, Australia.. Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia..
Department of Neurology, Royal Children's Hospital, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia..
Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia..
Department of Neurology, Monash Children's Hospital, Melbourne, Vic, Australia.. Department of Paediatrics, Monash University, Melbourne, Vic, Australia..
Medicine (University of Melbourne)
The Florey Institute of Neuroscience and Mental Health
Department of Neurology, Royal Children's Hospital, Melbourne, Vic, Australia.. Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia..
Victorian Clinical Genetics Service, Melbourne, Vic, Australia..
Department of Neurology, Royal Children's Hospital, Melbourne, Vic, Australia.. Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia.. Department of Neurology, Monash Children's Hospital, Melbourne, Vic, Australia..
Department of Neonatology, Mercy Hospital for Women, Melbourne, Vic, Australia..
Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia.. Department of Neonatology, Royal Children's Hospital, Melbourne, Vic, Australia..
Neonatal Services, Royal Women's Hospital, Melbourne, Vic, Australia..
Department of Neurology, Royal Children's Hospital, Melbourne, Vic, Australia.. Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia..
Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia.. Florey Institute of Neuroscience and Mental Health, Melbourne, Vic, Australia.. Department of Radiology, Royal Children's Hospital, Melbourne, Vic, Australia..
Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Melbourne, Vic, Australia..
Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA..
Northern Health, Melbourne, Vic, Australia..
Victorian Clinical Genetics Service, Melbourne, Vic, Australia..
Department of Neurology, Royal Children's Hospital, Melbourne, Vic, Australia.. Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia..
Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Melbourne, Vic, Australia..
Department of Neurology, Monash Children's Hospital, Melbourne, Vic, Australia..
Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia..
Department of Paediatrics, Monash University, Melbourne, Vic, Australia.. Monash Newborn, Monash Children's Hospital, Melbourne, Vic, Australia..
Department of Neurology, Royal Children's Hospital, Melbourne, Vic, Australia.. Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia..
Department of Neurology, Royal Children's Hospital, Melbourne, Vic, Australia.. Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia.. Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Melbourne, Vic, Australia.. Florey Institute of Neuroscience and Mental Health, Melbourne, Vic, Australia..
Department of Neurology, Royal Children's Hospital, Melbourne, Vic, Australia.. Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia.. Murdoch Children's Research Institute, Melbourne, Vic, Australia..
Issue Date: 21-Jan-2021
metadata.dc.date: 2021
Publication information: Epilepsia 2021; online first: 21 January
Abstract: To study the epilepsy syndromes among the severe epilepsies of infancy and assess their incidence, etiologies, and outcomes. A population-based cohort study was undertaken of severe epilepsies with onset before age 18 months in Victoria, Australia. Two epileptologists reviewed clinical features, seizure videos, and electroencephalograms to diagnose International League Against Epilepsy epilepsy syndromes. Incidence, etiologies, and outcomes at age 2 years were determined. Seventy-three of 114 (64%) infants fulfilled diagnostic criteria for epilepsy syndromes at presentation, and 16 (14%) had "variants" of epilepsy syndromes in which there was one missing or different feature, or where all classical features had not yet emerged. West syndrome (WS) and "WS-like" epilepsy (infantile spasms without hypsarrhythmia or modified hypsarrhythmia) were the most common syndromes, with a combined incidence of 32.7/100 000 live births/year. The incidence of epilepsy of infancy with migrating focal seizures (EIMFS) was 4.5/100 000 and of early infantile epileptic encephalopathy (EIEE) was 3.6/100 000. Structural etiologies were common in "WS-like" epilepsy (100%), unifocal epilepsy (83%), and WS (39%), whereas single gene disorders predominated in EIMFS, EIEE, and Dravet syndrome. Eighteen (16%) infants died before age 2 years. Development was delayed or borderline in 85 of 96 (89%) survivors, being severe-profound in 40 of 96 (42%). All infants with EIEE or EIMFS had severe-profound delay or were deceased, but only 19 of 64 (30%) infants with WS, "WS-like," or "unifocal epilepsy" had severe-profound delay, and only two of 64 (3%) were deceased. Three quarters of severe epilepsies of infancy could be assigned an epilepsy syndrome or "variant syndrome" at presentation. In this era of genomic testing and advanced brain imaging, diagnosing epilepsy syndromes at presentation remains clinically useful for guiding etiologic investigation, initial treatment, and prognostication.
URI: https://ahro.austin.org.au/austinjspui/handle/1/25678
DOI: 10.1111/epi.16810
ORCID: 0000-0002-5469-8411
0000-0003-4580-841X
0000-0001-5260-7187
0000-0001-6388-7444
PubMed URL: 33475165
Type: Journal Article
Subjects: Dravet syndrome
West syndrome
early infantile epileptic encephalopathy
epilepsy of infancy with migrating focal seizures
epilepsy syndrome
Appears in Collections:Journal articles

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