Article
mTOR signaling in epilepsy: insights from malformations of cortical development.
Cold Spring Harbor perspectives in medicine - 1 Apr 2015
Crino Peter B
Abstract excerpt
Over the past decade enhanced activation of the mammalian target of rapamycin (mTOR)-signaling cascade has been identified in focal malformations of cortical development (MCD) subtypes, which have been collectively referred to as "mTORopathies." Mutations in mTOR regulatory genes (e.g., TSC1, TSC2, AKT3, DEPDC5) have been associated with several focal MCD highly associated with epilepsy such as tuberous sclerosis...
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