哺乳动物雷帕霉素靶蛋白（mTOR）在局灶性皮质发育不良及相关局灶性皮质发育畸形中的激活。
Mammalian target of rapamycin (mTOR) activation in focal cortical dysplasia and related focal cortical malformations.
机构信息
Department of Neurology and the Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO 63110, USA.
出版信息
Exp Neurol. 2013 Jun;244:22-6. doi: 10.1016/j.expneurol.2011.10.002. Epub 2011 Oct 8.
Abstract
Focal cortical dysplasia (FCD) and other localized malformations of cortical development represent common causes of intractable pediatric epilepsy. Insights into the cellular and molecular pathogenesis of focal cortical malformations may reveal information about associated mechanisms of epileptogenesis and suggest new therapies for seizures caused by these developmental lesions. In animal models and human studies of FCD and the related disease of Tuberous Sclerosis Complex (TSC), the mammalian target of rapamycin (mTOR) pathway has been implicated in mediating cellular and molecular changes leading to the formation of the cortical malformations and the expression of epilepsy. The use of mTOR inhibitors may represent a rational therapeutic strategy for treating or even preventing epilepsy due to FCD and TSC.
摘要
局灶性皮质发育不良（FCD）和其他皮质发育局部畸形是儿童难治性癫痫的常见原因。深入了解局灶性皮质畸形的细胞和分子发病机制可能揭示与癫痫发生相关的机制信息，并为这些发育性病变引起的癫痫发作提供新的治疗方法。在 FCD 动物模型和人类研究以及相关的结节性硬化症（TSC）疾病中，雷帕霉素靶蛋白（mTOR）通路被认为在介导导致皮质畸形形成和癫痫表达的细胞和分子变化中起作用。使用 mTOR 抑制剂可能代表一种合理的治疗策略，可用于治疗甚至预防 FCD 和 TSC 引起的癫痫。
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