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Background <p>To identify factors associated with persistent seizures and disability in adults with tuberous sclerosis complex (TSC)-related epilepsy.</p> Methods <p>Retrospective 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&#xa0;months without seizures before last follow-up; disability as modified Rankin Scale (mRS) &gt; 2. Univariable and multivariable logistic regression were used; outcomes were compared between TSC1 and TSC2. Adult-onset epilepsy and mosaic cases were described.</p> Results <p>Of 180 adults with TSC, 148 were included. At last follow-up, 41.2% were seizure-free and 34.5% had mRS &gt; 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&#xa0;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.</p> Significance <p>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.</p>

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Epilepsy and disability in adults with tuberous sclerosis complex: a 16-year retrospective analysis

  • 期刊论文

  • 发表日期：

    2026年7月16日

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  • Quentin Calonge,
  • Aurélie Hanin,
  • Maëlle Dade,
  • Laurent Bailly,
  • Isabelle Gourfinkel-An,
  • Vincent Navarro

摘要

Background

To identify factors associated with persistent seizures and disability in adults with tuberous sclerosis complex (TSC)-related epilepsy.

Methods

Retrospective 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.

Results

Of 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.