Sex-specific disease modifiers in juvenile myoclonic epilepsy

Amy Shakeshaft, Naim Panjwani, Amber Collingwood, Holly Crudgington, Anna Hall, Danielle M. Andrade, Christoph P. Beier, Choong Yi Fong, Elena Gardella, Joanna Gesche, David A. Greenberg, Khalid Hamandi, Jeanette Koht, Kheng Seang Lim, Rikke S. Møller, Ching Ching Ng, Alessandro Orsini, Mark I. Rees, Guido Rubboli, Kaja K. SelmerPasquale Striano, Marte Syvertsen, Rhys H. Thomas, Jana Zarubova, Mark P. Richardson, Lisa J. Strug, Deb K. Pal

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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 
Original languageEnglish
Article number2785
JournalScientific Reports
Publication statusPublished - 21. Feb 2022

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