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FCDs are caused either by single somatic activating mutations in MTOR pathway genes or by double-hit inactivating mutations with a constitutional and a somatic loss-of-function mutation in repressors of the signalling pathway. Mild malformation with oligodendroglial hyperplasia in epilepsy is caused by somatic pathogenic <jats:italic>SLC35A2<\/jats:italic> mutations. FCDs most often present with drug-resistant focal epilepsy or epileptic encephalopathy. Most patients respond to surgical treatment. The use of mechanistic target of rapamycin inhibitors may complement the surgical approach. Treatment approaches and outcomes have improved with advances in neuroimaging, neurophysiology and genetics, although predictors of treatment response have only been determined in part.<\/jats:p>","DOI":"10.1136\/pn-2022-003404","type":"journal-article","created":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T13:21:18Z","timestamp":1677158478000},"page":"293-302","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":15,"title":["Focal cortical dysplasia: a practical guide for neurologists"],"prefix":"10.1136","volume":"23","author":[{"given":"Simona","family":"Balestrini","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit and Laboratories, Meyer Children's Hospital IRCCS, Florence, Italy"},{"name":"University of Florence, Florence, Italy"},{"name":"Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, 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