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Neuropathol Appl Neurobiol. 2018 Feb;44(1):6-17. doi: 10.1111/nan.12463.

Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.

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Department of Genetics and Cytogenetics, AP-HP, Institut du Cerveau et de la Moelle Epinière (ICM) - Hôpital Pitié-Salpêtrière, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Inserm U1127, CNRS UMR 7225, Paris, France.


Over the last decade, there has been increasing evidence that hyperactivation of the mechanistic target of rapamycin (mTOR) pathway is a hallmark of malformations of cortical development such as focal cortical dysplasia (FCD) or hemimegalencephaly. The mTOR pathway governs protein and lipid synthesis, cell growth and proliferation as well as metabolism and autophagy. The molecular genetic aetiology of mTOR hyperactivation has only been recently clarified. This article will review the current and still evolving genetic advances in the elucidation of the molecular basis of FCD. Activating somatic mutations in the MTOR gene are to date the most frequent mutations found in FCD brain specimens.


DEPDC5; GATOR1; focal cortical dysplasia; focal epilepsy; mTOR pathway; somatic mutations

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