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Background <p>Tuberous sclerosis complex (TSC) is a genetic, multisystem disease that often causes early active epilepsy and drug-resistant epilepsy.</p> Objective <p>To investigate the electroclinical predictors of TSC-associated epilepsy for outcome in a single-center cohort.</p> Methods <p>A TSC-cohort comprising 55 patients was evaluated for TSC-associated epilepsy and the predefined electroclinical predictors (seizure semiology, seizure-onset age, initial anti-seizure medications, utilization of mTOR inhibitors, EEG characteristics) with respect to seizure outcome, intellectual impairment, and TSC-associated neuropsychiatric disorders. An unfavorable overall outcome was defined by the presence of major morbidity in any core domain, including drug-resistant epilepsy (DRE) and/or moderate–severe cognitive impairment and/or autism spectrum disorder. The predictors were analyzed for unfavorable overall outcomes.</p> Results <p>TSC-associated epilepsy was identified in 49 (89.1%) patients of the cohort, with a median onset age of 11 months. Dual/polytherapy was needed in 41 (83.6%) patients. However, monotherapy was used in 8 (16.3%) patients. A seizure control rate with &gt; 50% reduction was achieved in 24 (49%) patients with initial anti-seizure medications with vigabatrin add-on therapy. DRE was identified in 23 of 49 (47%) patients in TSC-associated epilepsy The implementation of mTOR inhibitors (everolimus) for 6 patients with DRE resulted in &gt; 90% seizure reduction in 33.3% and 25–50% seizure reduction in 66.7% of the patients. Three predominant predictors for unfavorable outcomes were: (1) seizure onset before one year of age, (2) epileptic activity on EEG within the first year of life (3) having multiple seizure types.</p> Conclusion <p>Early administration of add-on therapy with vigabatrin and mTOR inhibitors should be considered to improve the seizure and neurodevelopmental outcomes in TSC patients with active epileptogenesis.</p>

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Electroclinical predictors for drug-resistant epilepsy and outcome in tuberous sclerosis complex: a single center pediatric cohort

  • 期刊论文

  • 发表日期：

    2026年4月16日

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  • Meltem Orbay,
  • Hepsen Mine Serin,
  • Seda kanmaz,
  • Erdem Simsek,
  • Esra Isik,
  • Tahir Atik,
  • Ozgur Cogulu,
  • Ferda Ozkinay,
  • Sanem Yilmaz,
  • Hasan Tekgul

摘要

Background

Tuberous sclerosis complex (TSC) is a genetic, multisystem disease that often causes early active epilepsy and drug-resistant epilepsy.

Objective

To investigate the electroclinical predictors of TSC-associated epilepsy for outcome in a single-center cohort.

Methods

A TSC-cohort comprising 55 patients was evaluated for TSC-associated epilepsy and the predefined electroclinical predictors (seizure semiology, seizure-onset age, initial anti-seizure medications, utilization of mTOR inhibitors, EEG characteristics) with respect to seizure outcome, intellectual impairment, and TSC-associated neuropsychiatric disorders. An unfavorable overall outcome was defined by the presence of major morbidity in any core domain, including drug-resistant epilepsy (DRE) and/or moderate–severe cognitive impairment and/or autism spectrum disorder. The predictors were analyzed for unfavorable overall outcomes.

Results

TSC-associated epilepsy was identified in 49 (89.1%) patients of the cohort, with a median onset age of 11 months. Dual/polytherapy was needed in 41 (83.6%) patients. However, monotherapy was used in 8 (16.3%) patients. A seizure control rate with > 50% reduction was achieved in 24 (49%) patients with initial anti-seizure medications with vigabatrin add-on therapy. DRE was identified in 23 of 49 (47%) patients in TSC-associated epilepsy The implementation of mTOR inhibitors (everolimus) for 6 patients with DRE resulted in > 90% seizure reduction in 33.3% and 25–50% seizure reduction in 66.7% of the patients. Three predominant predictors for unfavorable outcomes were: (1) seizure onset before one year of age, (2) epileptic activity on EEG within the first year of life (3) having multiple seizure types.

Conclusion

Early administration of add-on therapy with vigabatrin and mTOR inhibitors should be considered to improve the seizure and neurodevelopmental outcomes in TSC patients with active epileptogenesis.