Malformations of cortical development

Ann Neurol. 2016 Dec;80(6):797-810. doi: 10.1002/ana.24793. Epub 2016 Nov 11.


Malformations of cortical development (MCDs) compose a diverse range of disorders that are common causes of neurodevelopmental delay and epilepsy. With improved imaging and genetic methodologies, the underlying molecular and pathobiological characteristics of several MCDs have been recently elucidated. In this review, we discuss genetic and molecular alterations that disrupt normal cortical development, with emphasis on recent discoveries, and provide detailed radiological features of the most common and important MCDs. Ann Neurol 2016;80:797-810.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apoptosis
  • Cell Movement / genetics
  • Cell Proliferation / genetics
  • Humans
  • Malformations of Cortical Development / genetics*
  • Malformations of Cortical Development / metabolism*
  • Malformations of Cortical Development / pathology
  • Mutation
  • Signal Transduction / genetics