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Adjunctive antiepileptic efficacy and safety study of mTOR inhibitors in children with tuberous sclerosis complex.

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PMID41990685
JournalSeizure
Publication Date2026-04-05
Ingested2026-08-02 12:06 AM
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INTRODUCTION: The mTOR inhibitors sirolimus and everolimus are targeted therapies for tuberous sclerosis complex (TSC). Recent studies suggested their potential efficacy in treating epilepsy in TSC children. However, clinical evidence remains limited, and reports of adverse effects vary widely. This study aims to investigate the efficacy and safety of mTOR inhibitors in reducing epileptic seizures in TSC children. METHODS: We retrospectively analyzed the clinical data of children with TSC. Children were categorized into groups based on the use of mTOR inhibitors. Seizure frequency and adverse effects were monitored, and a ≥ 50 % reduction in seizure frequency was defined as a treatment response. Subgroup analyses were conducted for children with seizure onset age ≤2 years and >2 years, respectively. Additionally, the study compiled adverse effects and abnormal laboratory findings potentially associated with mTOR inhibitors. RESULTS: Among 104 TSC children with epilepsy, 53 were treated with mTOR inhibitor (mTORi group), 51 were not treated with mTOR inhibitor (No mTORi group). In the mTORi group, 81.1 % of children responded to treatment, significantly higher than the 54.9 % response rate in the No mTORi group (P = 0.004). Children treated with sirolimus (79.4 %) demonstrated a significantly higher response rate compared to those not receiving mTOR inhibitors (P = 0.021). In the subgroup with seizure onset ≤2 years, the response rate was significantly higher in the mTORi group than in the no mTORi group (73.5 % vs. 50.0 %, P = 0.049). Similarly, in the subgroup with seizure onset >2 years of age, the response rates between the two groups (94.7 % vs. 63.2 %) showed a significant difference (P = 0.042). In both subgroups, longer duration of mTOR inhibitor treatment was associated with higher response rates. Multivariate logistic regression analyses in both subgroups demonstrated that mTOR inhibitors are independent protective factors for antiepileptic treatment response in children (P < 0.05). Among the 98 children treated with mTOR inhibitors, 48 (49.0 %) experienced adverse effects, including four children (4.1 %) experienced Grade 3 adverse effects. Sirolimus and everolimus exhibited comparable safety profiles. The incidence of adverse effects among children who began mTOR inhibitor therapy before age 2 reached 62.5 %, significantly higher than the 42.4 % observed in children who started after age 2. CONCLUSION: Adjunctive therapy with mTOR inhibitors improves the response rate to antiepileptic treatment in children with TSC, with sirolimus and everolimus demonstrating comparable efficacy. Therapeutic benefits were observed regardless of seizure onset age, and longer treatment duration was associated with greater efficacy. mTOR inhibitors may cause some adverse effects in children, but most are relatively mild.

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Adjunctive antiepileptic efficacy and safety study of mTOR inhibitors in children with tuberous sclerosis complex.

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