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<p>Tuberous sclerosis complex (TSC) has multiple manifestations affecting virtually every organ system, chief among these is epilepsy. The cause is overactivation of the protein mechanistic target of rapamycin (mTOR). This article provides an overview of the current state of the art on the use of mTOR inhibitors for epilepsy within the context of TSC. The use of mTOR inhibitors improves epilepsy by reducing seizures and alterations to the underlying neurophysiology. Furthermore, they have a favorable safety profile. Recent studies investigate whether mTOR inhibitors can be implemented for the prevention of non-neurologic manfestations of TSC (e.g. cognitive impairment, cutaneous, pulmonary and renal lesions), for which they are broadly effective. Large clinical studies have shown sustained effectiveness of everolimus as a supplementary treatment in patients with treatment-refractive seizures associated with TSC and with a tolerable safety profile. This is in agreement with other published studies on mTOR inhibitors.</p>

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Tuberöse Sklerose-Komplex: Präzisionstherapie mit mTOR-Inhibitoren

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年3月21日

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  • David Neal Franz,
  • Wiebke C. Eckeberg,
  • David Ritter

摘要

Tuberous sclerosis complex (TSC) has multiple manifestations affecting virtually every organ system, chief among these is epilepsy. The cause is overactivation of the protein mechanistic target of rapamycin (mTOR). This article provides an overview of the current state of the art on the use of mTOR inhibitors for epilepsy within the context of TSC. The use of mTOR inhibitors improves epilepsy by reducing seizures and alterations to the underlying neurophysiology. Furthermore, they have a favorable safety profile. Recent studies investigate whether mTOR inhibitors can be implemented for the prevention of non-neurologic manfestations of TSC (e.g. cognitive impairment, cutaneous, pulmonary and renal lesions), for which they are broadly effective. Large clinical studies have shown sustained effectiveness of everolimus as a supplementary treatment in patients with treatment-refractive seizures associated with TSC and with a tolerable safety profile. This is in agreement with other published studies on mTOR inhibitors.