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Ex utero Electroporation and Whole Hemisphere Explants: A Simple Experimental Method for Studies of Early Cortical Development
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Malformations of cortical development.

Rahul S Desikan1, A James Barkovich1

  • 1Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, CA.

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|November 19, 2016
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Summary
This summary is machine-generated.

Malformations of cortical development (MCDs) are common causes of neurodevelopmental delay and epilepsy. This review details recent genetic discoveries and radiological features of these complex brain disorders.

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Area of Science:

  • Neuroscience
  • Genetics
  • Radiology

Background:

  • Malformations of cortical development (MCDs) represent a group of disorders frequently leading to neurodevelopmental delay and epilepsy.
  • Recent advancements in imaging and genetic techniques have significantly improved the understanding of MCDs' molecular and pathobiological underpinnings.

Purpose of the Study:

  • To review genetic and molecular alterations impacting normal cortical development.
  • To highlight recent discoveries in the field of MCDs.
  • To describe the detailed radiological features of common and significant MCDs.

Main Methods:

  • Literature review focusing on genetic and molecular studies of MCDs.
  • Analysis of recent advancements in neuroimaging techniques for MCDs.
  • Synthesis of radiological findings associated with various MCDs.

Main Results:

  • Identification of key genetic and molecular pathways disrupted in MCDs.
  • Elucidation of the pathobiology underlying several MCD subtypes.
  • Correlation of specific genetic defects with distinct radiological phenotypes.

Conclusions:

  • Genetic and molecular insights are crucial for understanding MCDs.
  • Advanced imaging provides essential diagnostic information for MCDs.
  • This review consolidates current knowledge on MCD genetics, pathobiology, and radiology.