Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/25678
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dc.contributor.authorHowell, Katherine B-
dc.contributor.authorFreeman, Jeremy L-
dc.contributor.authorMackay, Mark T-
dc.contributor.authorFahey, Michael C-
dc.contributor.authorArcher, John S-
dc.contributor.authorBerkovic, Samuel F-
dc.contributor.authorChan, Eunice-
dc.contributor.authorDabscheck, Gabriel-
dc.contributor.authorEggers, Stefanie-
dc.contributor.authorHayman, Michael-
dc.contributor.authorHolberton, James-
dc.contributor.authorHunt, Rodney W-
dc.contributor.authorJacobs, Susan E-
dc.contributor.authorKornberg, Andrew J-
dc.contributor.authorLeventer, Richard J-
dc.contributor.authorMandelstam, Simone-
dc.contributor.authorMcMahon, Jacinta M-
dc.contributor.authorMefford, Heather C-
dc.contributor.authorPanetta, Julie-
dc.contributor.authorRiseley, Jessica-
dc.contributor.authorRodriguez-Casero, Victoria-
dc.contributor.authorRyan, Monique M-
dc.contributor.authorSchneider, Amy L-
dc.contributor.authorSmith, Lindsay J-
dc.contributor.authorStark, Zornitza-
dc.contributor.authorWong, Flora-
dc.contributor.authorYiu, Eppie M-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorHarvey, A Simon-
dc.date2021-01-21-
dc.date.accessioned2021-01-26T22:55:54Z-
dc.date.available2021-01-26T22:55:54Z-
dc.date.issued2021-02-
dc.identifier.citationEpilepsia 2021; 62(2): 358-370en
dc.identifier.urihttps://ahro.austin.org.au/austinjspui/handle/1/25678-
dc.description.abstractTo 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.en
dc.language.isoeng-
dc.subjectDravet syndromeen
dc.subjectWest syndromeen
dc.subjectearly infantile epileptic encephalopathyen
dc.subjectepilepsy of infancy with migrating focal seizuresen
dc.subjectepilepsy syndromeen
dc.titleThe severe epilepsy syndromes of infancy: A population-based study.en
dc.typeJournal Articleen
dc.identifier.journaltitleEpilepsiaen
dc.identifier.affiliationDepartment of Neonatology, Mercy Hospital for Women, Melbourne, Vic, Australiaen
dc.identifier.affiliationDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USAen
dc.identifier.affiliationDepartment of Neurology, Royal Children's Hospital, Melbourne, Vic, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Melbourne, Vic, Australiaen
dc.identifier.affiliationMurdoch Children's Research Institute, Melbourne, Vic, Australiaen
dc.identifier.affiliationDepartment of Neurology, Monash Children's Hospital, Melbourne, Vic, Australiaen
dc.identifier.affiliationVictorian Clinical Genetics Service, Melbourne, Vic, Australiaen
dc.identifier.affiliationDepartment of Paediatrics, Monash University, Melbourne, Vic, Australiaen
dc.identifier.affiliationDepartment of Radiology, Royal Children's Hospital, Melbourne, Vic, Australiaen
dc.identifier.affiliationDepartment of Neonatology, Royal Children's Hospital, Melbourne, Vic, Australiaen
dc.identifier.affiliationFlorey Institute of Neuroscience and Mental Health, Melbourne, Vic, Australiaen
dc.identifier.affiliationMonash Newborn, Monash Children's Hospital, Melbourne, Vic, Australiaen
dc.identifier.affiliationDepartment of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Melbourne, Vic, Australiaen
dc.identifier.affiliationNorthern Health, Melbourne, Vic, Australiaen
dc.identifier.affiliationNeonatal Services, Royal Women's Hospital, Melbourne, Vic, Australiaen
dc.identifier.affiliationMedicine (University of Melbourne)en
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Healthen
dc.identifier.doi10.1111/epi.16810en
dc.type.contentTexten
dc.identifier.orcid0000-0002-5469-8411en
dc.identifier.orcid0000-0003-4580-841Xen
dc.identifier.orcid0000-0001-5260-7187en
dc.identifier.orcid0000-0001-6388-7444en
dc.identifier.pubmedid33475165-
local.name.researcherArcher, John S
item.openairetypeJournal Article-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.languageiso639-1en-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptNeurology-
crisitem.author.deptEpilepsy Research Centre-
crisitem.author.deptEpilepsy Research Centre-
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