Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder affecting approximately 1 in 6,000 in general population and represents one of the most common genetic causes of epilepsy. Epilepsy affects 90% of the patients and appears in the first 2 years of life in the majority of them. Early onset of epilepsy in the first year of life is associated with high risk of cognitive decline and neuropsychiatric problems including autism. Recently TSC has been recognized as a model of genetic epilepsies. TSC is a genetic condition with known dysregulated mTOR pathway and is increasingly viewed as a model for human epileptogenesis. Moreover, TSC is characterized by a hyperactivation of mTOR (mammalian target of rapamycin) pathway, and mTOR activation was showed to be implicated in epileptogenesis in many animal models and human epilepsies. Recently published studies documented positive effect of preventive or disease modifying treatment of epilepsy in infants with high risk of epilepsy with significantly lower incidence of epilepsy and better cognitive outcome. Further studies on preventive treatment of epilepsy in other genetic epilepsies of early childhood are considered. This article is part of the special issue entitled 'New Epilepsy Therapies for the 21st Century - From Antiseizure Drugs to Prevention, Modification and Cure of Epilepsy'.

中文翻译：

---

改变遗传性癫痫病-结节性硬化症研究的结果。

结节性硬化症复合体（TSC）是常染色体显性遗传性神经皮肤疾病，在普通人群中约有6,000例患此病，是癫痫病最常见的遗传原因之一。癫痫病影响了90％的患者，并且大多数患者均在生命的头2年出现。在生命的第一年中，癫痫的早期发作与认知能力下降和包括自闭症在内的神经精神疾病的高风险相关。最近，TSC被公认为是遗传性癫痫的模型。TSC是具有已知的mTOR通路失调的遗传疾病，并且越来越被视为人类癫痫发生的模型。此外，TSC的特征在于mTOR（雷帕霉素的哺乳动物靶标）途径的过度活化，在许多动物模型和人类癫痫病中，mTOR激活与癫痫发生有关。最近发表的研究表明，在癫痫风险高，癫痫发生率明显降低且认知效果更好的婴儿中，预防或疾病改良治疗癫痫的积极作用。考虑对儿童早期其他遗传性癫痫中的癫痫进行预防性治疗的进一步研究。本文是名为“ 21世纪的新癫痫疗法-从抗癫痫药到预防，改良和治疗癫痫病”的特刊的一部分。最近发表的研究表明，在癫痫风险高，癫痫发生率明显降低且认知效果更好的婴儿中，预防或疾病改良治疗癫痫的积极作用。考虑对儿童早期其他遗传性癫痫中的癫痫进行预防性治疗的进一步研究。本文是名为“ 21世纪的新癫痫疗法-从抗癫痫药到预防，改良和治疗癫痫病”的特刊的一部分。最近发表的研究表明，在癫痫风险高，癫痫发生率明显降低且认知效果更好的婴儿中，预防或疾病改良治疗癫痫的积极作用。考虑对儿童早期其他遗传性癫痫中的癫痫进行预防性治疗的进一步研究。本文是名为“ 21世纪的新癫痫疗法-从抗癫痫药到预防，改良和治疗癫痫病”的特刊的一部分。