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Related Experiment Video

Updated: Apr 13, 2026

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Malformations of cortical development and epilepsy.

A James Barkovich1, William B Dobyns2, Renzo Guerrini3

  • 1Department of Radiology and Biomedical Imaging, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, California 94143-0628.

Cold Spring Harbor Perspectives in Medicine
|May 3, 2015
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Summary

Malformations of cortical development (MCDs) cause epilepsy and are increasingly understood through advanced imaging and genetic testing. This review covers major MCDs, focusing on clinical, embryological, and genetic aspects.

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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Malformations of cortical development (MCDs) are a significant cause of epilepsy.
  • Recent advancements in neuroimaging and genetic analysis have led to the identification of new MCDs.
  • Understanding protein function within molecular pathways is crucial for comprehending brain development perturbations.

Purpose of the Study:

  • To review major malformations of cortical development.
  • To provide insights from clinical, embryological, and genetic perspectives.
  • To discuss recent literature on diagnosis, developmental mechanisms, and future research.

Main Methods:

  • Literature review of major MCDs.
  • Analysis of clinical presentations.
  • Examination of embryological origins.
  • Genetic basis investigation.
  • Synthesis of recent research findings.

Main Results:

  • MCDs represent a diverse group of neurodevelopmental disorders.
  • Genetic mutations significantly impact protein function and molecular pathways in MCDs.
  • Improved diagnostic tools enhance the identification and classification of MCDs.

Conclusions:

  • MCDs are a critical area of study for understanding epilepsy and brain development.
  • Continued research into genetic and molecular mechanisms is essential.
  • Future research should focus on refining diagnosis and exploring therapeutic avenues.