ArticleJournal of neurology2026
Epilepsy and disability in adults with tuberous sclerosis complex: a 16-year retrospective analysis.
Article in Journal of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundTo identify factors associated with persistent seizures and disability in adults with tuberous sclerosis complex (TSC)-related epilepsy.
methodsRetrospective single-center cohort study of adults with TSC followed in Paris (2005-2021). Patients without a seizure history were excluded. Clinical, neuroimaging, and genetic data were collected. Seizure freedom was defined as ≥ 12 months without seizures before last follow-up; disability as modified Rankin Scale (mRS) > 2. Univariable and multivariable logistic regression were used; outcomes were compared between TSC1 and TSC2. Adult-onset epilepsy and mosaic cases were described.
resultsOf 180 adults with TSC, 148 were included. At last follow-up, 41.2% were seizure-free and 34.5% had mRS > 2. Persistent seizures were associated in univariable analysis with childhood drug-resistant epilepsy (DRE) (OR 4.98; 95% CI 2.43-10.7), status epilepticus (OR 5.25; 95% CI 1.89-18.7), and severe intellectual disability; only childhood DRE remained significant after adjustment. Disability was associated in univariable analysis with onset before 1 year, spasms at onset, status epilepticus, and childhood DRE. In multivariable analysis, spasms at onset (OR 4.78; 95% CI 1.76-13.7) and childhood DRE (OR 4.65; 95% CI 1.66-13.7) remained significant. Adult-onset epilepsy was rare (5.4%) and generally mild. TSC2 mutations were associated with more severe cognitive and organ involvement but did not influence adult seizure persistence. SIGNIFICANCE: Childhood drug-resistant epilepsy was the strongest predictor of persistent adult seizures and disability. TSC2 mutations were linked to a more severe phenotype but does not predict the course of epilepsy in adulthood. These results support early, optimized seizure management.
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