Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple organ systems due to an inactivating variant in either TSC1 or TSC2, resulting in the hyperactivation of the mechanistic target of rapamycin (mTOR) pathway. Dysregulated mTOR signaling results in increased cell growth and proliferation. Clinically, TSC patients exhibit great phenotypic variability, but the neurologic and neuropsychiatric manifestations of the disease have the greatest morbidity and mortality. TSC-associated epilepsy occurs in nearly all patients and is often difficult to treat because it is refractory to multiple antiseizure medications. The advent of mTOR inhibitors offers great promise in the treatment of TSC-associated epilepsy and other neurodevelopmental manifestations of the disease; however, the optimal timing of therapeutic intervention is not yet fully understood.

中文翻译：

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结节性硬化症的遗传病因，诊断和治疗。

结节性硬化症（TSC）是一种常染色体显性遗传疾病，由于TSC1或TSC2中的失活变异而影响多器官系统，导致雷帕霉素（mTOR）途径的机械靶标过度活化。mTOR信号转导失调导致细胞生长和增殖增加。在临床上，TSC患者表现出很大的表型变异性，但是该疾病的神经和神经精神病学表现具有最高的发病率和死亡率。与TSC相关的癫痫发作几乎在所有患者中发生，并且通常难以治疗，因为它对多种抗癫痫药均无效。mTOR抑制剂的出现为TSC相关性癫痫和该疾病的其他神经发育表现的治疗提供了广阔的前景。然而，