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Sex-specific disease modifiers in juvenile myoclonic epilepsy

A. Shakeshaft, N. Panjwani, A. Collingwood, H. Crudgington, A. Hall, DM. Andrade, CP. Beier, CY. Fong, E. Gardella, J. Gesche, DA. Greenberg, K. Hamandi, J. Koht, KS. Lim, RS. Møller, CC. Ng, A. Orsini, MI. Rees, G. Rubboli, KK. Selmer, P....

. 2022 ; 12 (1) : 2785. [pub] 20220221

Jazyk angličtina Země Velká Británie

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc22010963

Grantová podpora
MR/K013998/1 Medical Research Council - United Kingdom
MR/N026063/1 Medical Research Council, Centre for Neurodevelopmental Disorders
MR/N026063/1 Medical Research Council, Centre for Neurodevelopmental Disorders
201503MOP-342469 CIHR - Canada
201809FDN-407295 CIHR - Canada

Juvenile myoclonic epilepsy (JME) is a common idiopathic generalised epilepsy with variable seizure prognosis and sex differences in disease presentation. Here, we investigate the combined epidemiology of sex, seizure types and precipitants, and their influence on prognosis in JME, through cross-sectional data collected by The Biology of Juvenile Myoclonic Epilepsy (BIOJUME) consortium. 765 individuals met strict inclusion criteria for JME (female:male, 1.8:1). 59% of females and 50% of males reported triggered seizures, and in females only, this was associated with experiencing absence seizures (OR = 2.0, p < 0.001). Absence seizures significantly predicted drug resistance in both males (OR = 3.0, p = 0.001) and females (OR = 3.0, p < 0.001) in univariate analysis. In multivariable analysis in females, catamenial seizures (OR = 14.7, p = 0.001), absence seizures (OR = 6.0, p < 0.001) and stress-precipitated seizures (OR = 5.3, p = 0.02) were associated with drug resistance, while a photoparoxysmal response predicted seizure freedom (OR = 0.47, p = 0.03). Females with both absence seizures and stress-related precipitants constitute the prognostic subgroup in JME with the highest prevalence of drug resistance (49%) compared to females with neither (15%) and males (29%), highlighting the unmet need for effective, targeted interventions for this subgroup. We propose a new prognostic stratification for JME and suggest a role for circuit-based risk of seizure control as an avenue for further investigation.

Adult Epilepsy Genetics Program Krembil Research Institute University of Toronto Toronto Canada

Cardiff and Vale University Health Board Cardiff UK

Danish Epilepsy Centre Dianalund Denmark

Department of Basic and Clinical Neurosciences Maurice Wohl Clinical Neurosciences Institute Institute of Psychiatry Psychology and Neuroscience King's College London 5 Cutcombe Road London SE5 9RX UK

Department of Clinical and Experimental Medicine Pisa University Hospital Pisa Italy

Department of Neurology 2nd Faculty of Medicine Charles University and Motol University Hospital Prague Czech Republic

Department of Neurology Drammen Hospital Vestre Viken Health Trust Oslo Norway

Department of Neurology Oslo University Hospital Oslo Norway

Department of Regional Health Services University of Southern Denmark Odense Denmark

Departments of Statistical Sciences and Computer Science and Division of Biostatistics The University of Toronto Toronto Canada

Division of Clinical Neuroscience Department of Research and Innovation Oslo University Hospital Oslo Norway

Division of Neurology Department of Medicine Faculty of Medicine University of Malaya Kuala Lumpur Malaysia

Division of Paediatric Neurology Department of Paediatrics Faculty of Medicine University of Malaya Kuala Lumpur Malaysia

Evelina London Children's Hospital London UK

Faculty of Medical Sciences Translational and Clinical Research Institute Newcastle University Newcastle UK

Institute of Biological Sciences Faculty of Science University of Malaya Kuala Lumpur Malaysia

IRCCS Istituto 'G Gaslini' Genoa Italy

King's College Hospital London UK

MRC Centre for Neurodevelopmental Disorders King's College London London UK

National Centre for Epilepsy Oslo University Hospital Oslo Norway

Nationwide Children's Hospital Columbus OH USA

Neurology Research Group Swansea University Medical School Swansea UK

Newcastle Upon Tyne NHS Foundation Trust Newcastle UK

Odense University Hospital Odense Denmark

Program in Genetics and Genome Biology The Hospital for Sick Children 555 University Avenue Toronto ON Canada

University of Copenhagen Copenhagen Denmark

University of Genova Genoa Italy

Citace poskytuje Crossref.org

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