ArticleScientific reports2022
Sex-specific disease modifiers in juvenile myoclonic epilepsy.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Pooled it
- Demographic reporting across a decade of neuroimaging: a systematic review.Brain imaging and behavior · 2022Pooled it
- Transfer learning enhances clinical utility of polygenic scores with small, phenotypically refined cohorts.Genome research · 2026Article
- Women With Genetic Epilepsies.Neurology. Genetics · 2025Review
- SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy.NPJ genomic medicine · 2023Article
- Juvenile Myoclonic Epilepsy: Seizure and Social Outcomes in Taiwan.Healthcare (Basel, Switzerland) · 2023Article
- Sex Differences in Inflammation and Muscle Wasting in Aging and Disease.International journal of molecular sciences · 2023Review
- 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.Brain communications · 2023Review
- Electroclinical characteristics of photosensitive epilepsy: A retrospective study of 31 Chinese children and literature review.Frontiers in pediatrics · 2023Article
- Review
- Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: A systematic review and individual participant data meta-analysis.EClinicalMedicine · 2022Article
- Heterogeneity of resting-state EEG features in juvenile myoclonic epilepsy and controls.Brain communications · 2022Article
- The beneficial effect of probiotics as an adjuvant treatment in childhood drug resistant epilepsy: A prospective pilot study.International journal of immunopathology and pharmacologyArticle
- Let's Talk About Sex and Juvenile Myoclonic Epilepsy.Epilepsy currentsArticle
- Gender differences in quality of life and psychiatric comorbidities among persons with juvenile myoclonic epilepsy: A single-center cross-sectional study.Journal of neurosciences in rural practiceArticle
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Authors and funding
27 authors at 17 institutions in 8 countries.
Funding
Abstract
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.
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Registered trials
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