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MCDs are most often diagnosed on the basis of imaging, although subtle lesions, such as focal cortical dysplasia, may only be revealed on neuropathology. Different subtypes have been defined, including lissencephaly, heterotopia, cobblestone malformation, polymicrogyria, and dysgyria. Many MCDs are of genetic origin, although acquired factors, such as congenital cytomegalovirus infections and twinning sequence, can lead to similar phenotypes. In this narrative review, we provide an overview of the diagnostic approach to MCDs, which is illustrated with clinical vignettes, on diagnostic pitfalls such as somatic mosaicism and consanguinity, and recognizable phenotypes on imaging, such as tubulinopathies, the lissencephaly spectrum, tuberous sclerosis complex, and <jats:italic>FLNA<\/jats:italic>\u2010related periventricular nodular heterotopia.<\/jats:p>","DOI":"10.1111\/dmcn.15882","type":"journal-article","created":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T18:28:39Z","timestamp":1708712919000},"page":"974-989","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Diagnostic work\u2010up in malformations of cortical development"],"prefix":"10.1111","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8258-5695","authenticated-orcid":false,"given":"Ellen","family":"Rijckmans","sequence":"first","affiliation":[{"name":"Pediatric Neurology 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