We aim to evaluate if the myelin pathology observed in epilepsy-associated focal cortical dysplasia type 2B (FCD2B) and—histologically indistinguishable—cortical tubers of tuberous sclerosis complex (TSC) is primarily related to the underlying malformation or constitutes a secondary phenomenon due to the toxic microenvironment created by epileptic seizures. We also aim to investigate the possible beneficial effect of the mTOR pathway regulator everolimus on white matter pathology.

中文翻译：

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mTOR 病中少突胶质细胞的内在衰竭导致髓鞘质生成受损

我们的目的是评估在癫痫相关的局灶性皮质发育不良 2B 型 (FCD2B) 和组织学上无法区分的结节性硬化症 (TSC) 皮质结节中观察到的髓磷脂病理是否主要与潜在的畸形相关，或者构成由于癫痫发作产生的有毒微环境。我们还旨在研究 mTOR 通路调节剂依维莫司对白质病理学可能产生的有益作用。