Malformations of Cortical Development

  • Anna C. Jansen
  • , Renske Oegema
  • , William B. Dobyns
  • , Nataliya Di Donato

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Abstract

Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. MCDs can be associated with lifelong drug-resistant epilepsy, cerebral palsy, feeding difficulties, intellectual disability and other neurological and behavioral anomalies, which place a substantial burden on affected individuals and their families. MCDs can result from geneticor acquired factors that disrupt cell proliferation and specification, neuronal migration, and cortical organization. The diagnostic pathway for MCDs is complex owing to wide variations in presentation and etiology, thereby hampering timely and adequate management.

Original languageEnglish
Title of host publicationSwaiman's Pediatric Neurology
Subtitle of host publicationPrinciples and Practice
PublisherElsevier
Pages375-383.e1
ISBN (Electronic)9780443109447
ISBN (Print)9780443111068
DOIs
Publication statusPublished - 2026

Keywords

  • cobblestone malformation
  • dysgyria
  • heterotopia
  • lissencephaly
  • malformations of cortical development
  • polymicrogyria
  • tubulinopathy

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