Epilepsy is one of the main symptoms affecting the lives of individuals with tuberous sclerosis complex (TSC), causing a high rate of morbidity. Individuals with TSC can present with various types of seizures, epilepsies, and epilepsy syndromes that can coexist or appear in relation to age. Focal epilepsy is the most frequent epilepsy type with two developmental and epileptic encephalopathies: infantile spasms syndrome and Lennox–Gastaut syndrome. Active screening and early management of epilepsy is recommended in individuals with TSC to limit its consequences and its impact on quality of life, cognitive outcome and the economic burden of the disease. The progress in the knowledge of the mechanisms underlying epilepsy in TSC has paved the way for new concepts in the management of epilepsy related to TSC. In addition, we are moving from traditional “reactive” and therapeutic choices with current antiseizure medications used after the onset of seizures, to a proactive approach, aimed at predicting and preventing epileptogenesis and the onset of epilepsy with vigabatrin, and to personalized treatments with mechanistic therapies, namely mechanistic/mammalian target of rapamycin inhibitors. Indeed, epilepsy linked to TSC is one of the only epilepsies for which a predictive and preventive approach can delay seizure onset and improve seizure response. However, the efficacy of such interventions on long-term cognitive and psychiatric outcomes is still under investigation.

癫痫是影响结节性硬化症 (TSC) 患者生活的主要症状之一，其发病率很高。患有 TSC 的个体可能会出现各种类型的癫痫发作、癫痫和癫痫综合征，这些癫痫综合征可以共存或出现与年龄有关。局灶性癫痫是最常见的癫痫类型，有两种发育性和癫痫性脑病：婴儿痉挛综合征和 Lennox-Gastaut 综合征。建议对患有 TSC 的个体进行癫痫的积极筛查和早期管理，以限制其后果及其对生活质量、认知结果和疾病经济负担的影响。对 TSC 癫痫潜在机制知识的了解为 TSC 相关癫痫管理的新概念铺平了道路。此外，我们正在从传统的“反应性”和治疗选择，即在癫痫发作后使用当前的抗癫痫药物，转向积极主动的方法，旨在预测和预防癫痫发生和癫痫发作，使用氨己烯酸，以及使用机械疗法进行个性化治疗，即雷帕霉素抑制剂的机械/哺乳动物靶点。事实上，与 TSC 相关的癫痫是仅有的一种癫痫，其预测和预防方法可以延迟癫痫发作并改善癫痫反应。然而，此类干预对长期认知和精神结局的疗效仍在研究中。旨在使用氨己烯酸预测和预防癫痫发生和癫痫发作，并通过机械疗法进行个性化治疗，即雷帕霉素抑制剂的机械/哺乳动物靶点。事实上，与 TSC 相关的癫痫是仅有的一种癫痫，其预测和预防方法可以延迟癫痫发作并改善癫痫反应。然而，此类干预对长期认知和精神结局的疗效仍在研究中。旨在使用氨己烯酸预测和预防癫痫发生和癫痫发作，并通过机械疗法进行个性化治疗，即雷帕霉素抑制剂的机械/哺乳动物靶点。事实上，与 TSC 相关的癫痫是仅有的一种癫痫，其预测和预防方法可以延迟癫痫发作并改善癫痫反应。然而，此类干预对长期认知和精神结局的疗效仍在研究中。