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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 epilepsy due to FCD type II and hemimegalencephaly. Epilepsy surgery for FCD type II and HME due to pathogenic variants in mTOR pathway genes is associated with good surgical outcomes. CSF liquid biopsy represents a less invasive option for identification of somatic mutations in cases without detectable mTOR pathway germline mutations. mTOR inhibitors may offer an alternative therapeutic strategy for individuals with inaccessible lesions or persistent seizures after surgery. PIK3CA and AKT inhibitors are promising targeted therapies for individuals with PIKC3A- and AKT3-associated MCD. Evidence-based recommendations are highlighted in blue and potential future applications are highlighted in gold. FCD, focal cortical dysplasia; HME, hemimegalencephaly; MCD, malformation of cortical development; mTORi, mechanistic target of rapamycin inhibitor.