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Updated: Mar 8, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Published on: December 1, 2017

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Focal Cortical Dysplasia: Gene Mutations, Cell Signaling, and Therapeutic Implications

Philip H Iffland1, Peter B Crino2

  • 1Shriners Hospitals Pediatric Research Center, Lewis Katz School of Medicine, Temple University, Philadelphia, Pennsylvania 19140;

Annual Review of Pathology
|January 31, 2017
PubMed

Insights

Focal cortical dysplasias (FCDs) are developmental brain disorders causing epilepsy. This review covers FCD classification, genetics, and cellular changes, aiding understanding of these common pediatric epilepsy causes.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Focal cortical dysplasias (FCDs) are malformations of cortical development (MCDs) and a leading cause of pediatric epilepsy.
  • These disorders are linked to mutations in the PI3K/Akt/mTOR pathway, crucial for neuronal development.
  • FCDs present with abnormal brain structure, cellular changes, and often medication-resistant seizures.

Purpose of the Study:

  • To provide a comprehensive literature review of Focal Cortical Dysplasias (FCDs).
  • To address current understanding of FCD classification, histopathology, genetics, and cellular signaling.

Main Methods:

  • Literature review of existing studies on FCDs.
  • Synthesis of information on classification, histopathology, molecular genetics, and electrophysiology.
  • Analysis of transcriptome and cell signaling data.

Main Results:

  • FCDs are a heterogeneous group of disorders with diverse genetic underpinnings.
  • Key features include abnormal cortical lamination, cytomegaly, and altered cellular polarity.
  • Electrophysiological abnormalities and inflammation are associated with FCD-related seizures.

Conclusions:

  • FCDs represent a spectrum of neurodevelopmental disorders driven by specific genetic mutations.
  • Understanding FCDs is critical for developing targeted treatments for drug-resistant epilepsy.
  • Further research into signaling pathways and cellular mechanisms is needed.
Keywords:
developmental biologyfocal cortical dysplasia electrophysiologyinflammationmTORmTORopathymolecular geneticstranscriptome

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