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. 2021 Sep 25;3(4):fcab222. doi: 10.1093/braincomms/fcab222

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© The Author(s) (2021). Published by Oxford University Press on behalf of the Guarantors of Brain.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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A personalised medicine approach to the management of GATOR1-related epilepsies. Early diagnostic sequencing of mTOR pathway genes is recommended in non-lesional epilepsies and in epilepsies due to FCD or HME. LoF DEPDC5 and NPRL3 variants are associated with severe epilepsy phenotypes. Treatment options for GATOR1-related DRE include epilepsy surgery and potentially, mTOR inhibitors. Evidence-based recommendations are highlighted in blue and potential future applications are highlighted in gold. FCD, focal cortical dysplasia; GATOR1, GAP activity towards Rags 1 complex; HME, hemimegalencephaly; LoF, loss-of-function; mTORi, mechanistic target of rapamycin inhibitor; SUDEP, sudden unexpected death in epilepsy.