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Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications
G. Rubboli, CP. Beier, KK. Selmer, M. Syvertsen, A. Shakeshaft, A. Collingwood, A. Hall, DM. Andrade, CY. Fong, J. Gesche, DA. Greenberg, K. Hamandi, KS. Lim, CC. Ng, A. Orsini, BIOJUME Consortium , P. Striano, RH. Thomas, J. Zarubova, MP....
Status neindexováno Jazyk angličtina Země Anglie, Velká Británie
Typ dokumentu časopisecké články, přehledy
NLK
Directory of Open Access Journals
od 2019
PubMed Central
od 2019
Oxford Journals Open Access Collection
od 2019-07-01
ROAD: Directory of Open Access Scholarly Resources
od 2019
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Reliable definitions, classifications and prognostic models are the cornerstones of stratified medicine, but none of the current classifications systems in epilepsy address prognostic or outcome issues. Although heterogeneity is widely acknowledged within epilepsy syndromes, the significance of variation in electroclinical features, comorbidities and treatment response, as they relate to diagnostic and prognostic purposes, has not been explored. In this paper, we aim to provide an evidence-based definition of juvenile myoclonic epilepsy showing that with a predefined and limited set of mandatory features, variation in juvenile myoclonic epilepsy phenotype can be exploited for prognostic purposes. Our study is based on clinical data collected by the Biology of Juvenile Myoclonic Epilepsy Consortium augmented by literature data. We review prognosis research on mortality and seizure remission, predictors of antiseizure medication resistance and selected adverse drug events to valproate, levetiracetam and lamotrigine. Based on our analysis, a simplified set of diagnostic criteria for juvenile myoclonic epilepsy includes the following: (i) myoclonic jerks as mandatory seizure type; (ii) a circadian timing for myoclonia not mandatory for the diagnosis of juvenile myoclonic epilepsy; (iii) age of onset ranging from 6 to 40 years; (iv) generalized EEG abnormalities; and (v) intelligence conforming to population distribution. We find sufficient evidence to propose a predictive model of antiseizure medication resistance that emphasises (i) absence seizures as the strongest stratifying factor with regard to antiseizure medication resistance or seizure freedom for both sexes and (ii) sex as a major stratifying factor, revealing elevated odds of antiseizure medication resistance that correlates to self-report of catamenial and stress-related factors including sleep deprivation. In women, there are reduced odds of antiseizure medication resistance associated with EEG-measured or self-reported photosensitivity. In conclusion, by applying a simplified set of criteria to define phenotypic variations of juvenile myoclonic epilepsy, our paper proposes an evidence-based definition and prognostic stratification of juvenile myoclonic epilepsy. Further studies in existing data sets of individual patient data would be helpful to replicate our findings, and prospective studies in inception cohorts will contribute to validate them in real-world practice for juvenile myoclonic epilepsy management.
Abigail Wexner Research Institute Nationwide Children's Hospital Columbus 43215 USA
Danish Epilepsy Centre Filadelfia Dianalund 4293 Denmark
Department of Clinical and Experimental Medicine Pisa University Hospital Pisa 56126 Italy
Department of Neurology 2nd Faculty of Medicine Charles University Prague 150 06 Czech Republic
Department of Neurology Cardiff and Vale University Health Board Cardiff CF14 4XW UK
Department of Neurology Drammen Hospital Vestre Viken Health Trust Oslo 3004 Norway
Department of Neurology Odense University Hospital Odense 5000 Denmark
Institute of Biological Sciences Faculty of Science University of Malaya Kuala Lumpur 50603 Malaysia
Institute of Clinical Medicine University of Copenhagen Copenhagen 2200 Denmark
Motol University Hospital Prague 150 06 Czech Republic
MRC Centre for Neurodevelopmental Disorders King's College London London SW1H 9NA UK
National Centre for Epilepsy Oslo University Hospital Oslo 1337 Norway
Newcastle upon Tyne NHS Foundation Trust Newcastle upon Tyne NE7 7DN UK
Pediatric Neurology and Muscular Disease Unit IRCCS Istituto 'G Gaslini' Genova 16147 Italy
Program in Genetics and Genome Biology The Hospital for Sick Children Toronto M5G 1X8 Canada
Citace poskytuje Crossref.org
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