Mammalian target of rapamycin (mTOR) activation in focal cortical dysplasia and related focal cortical malformations.
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.
Department of Neurology and the Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO 63110, USA. wong_m@wustl.edu
Michael
M
Wong
D000818:Animals; D006801:Humans; D054220:Malformations of Cortical Development / Q000378:metabolism* / Q000473:pathology; D015398:Signal Transduction / Q000502:physiology*; D058570:TOR Serine-Threonine Kinases / Q000378:metabolism*; D014402:Tuberous Sclerosis / Q000378:metabolism* / Q000473:pathology
C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases