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Article

Epilepsy in the mTORopathies: opportunities for precision medicine

21 Sept 2021

Abstract excerpt

Abstract The mechanistic target of rapamycin signalling pathway serves as a ubiquitous regulator of cell metabolism, growth, proliferation and survival. The main cellular activity of the mechanistic target of rapamycin cascade funnels through mechanistic target of rapamycin complex 1, which is inhibited by rapamycin, a macrolide compound produced by the bacterium Streptomyces hygroscopicus. Pathogenic variants in...

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PMID: 34632383
DOI: 10.1093/braincomms/fcab222

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