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Sex-specific disease modifiers in juvenile myoclonic epilepsy

Shakeshaft, Amy ORCID:, Panjwani, Naim, Collingwood, Amber, Crudgington, Holly, Hall, Anna, Andrade, Danielle M., Beier, Christoph P., Fong, Choong Yi, Gardella, Elena, Gesche, Joanna, Greenberg, David A., Hamandi, Khalid, Koht, Jeanette, Lim, Kheng Seang, Møller, Rikke S., Ng, Ching Ching, Orsini, Alessandro, Rees, Mark I., Rubboli, Guido, Selmer, Kaja K., Striano, Pasquale, Syvertsen, Marte, Thomas, Rhys H., Zarubova, Jana, Richardson, Mark P., Strug, Lisa J. and Pal, Deb K. 2022. Sex-specific disease modifiers in juvenile myoclonic epilepsy. Scientific Reports 12 , 2785. 10.1038/s41598-022-06324-2

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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Psychology
Cardiff University Brain Research Imaging Centre (CUBRIC)
Publisher: Nature Research
ISSN: 2045-2322
Date of First Compliant Deposit: 22 February 2022
Date of Acceptance: 25 November 2021
Last Modified: 03 May 2023 18:40

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