MTOR pathway in focal cortical dysplasia type 2: What do we know?

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Fernanda Majolo1, Daniel Rodrigo Marinowic1, Denise Cantarelli Machado1

  • 1Brain Institute of Rio Grande do Sul (BraIns), Brazil; Postgraduate Program in Medicine and Health Sciences, PUCRS, Brazil.

Epilepsy & Behavior : E&B
|June 27, 2018
PubMed

Insights

Focal cortical dysplasia type 2 (FCD2), a cause of refractory epilepsy, involves abnormal brain development. This review updates knowledge on the mTOR pathway

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Molecular Biology

Background:

  • Focal cortical dysplasia (FCD) is a common cause of refractory epilepsy.
  • FCD type 2 is characterized by cortical laminar disorganization and dysplastic neurons.
  • Understanding FCD pathogenesis is crucial for advancing epilepsy treatment.

Purpose of the Study:

  • To provide an updated review of the mammalian target of rapamycin (mTOR) pathway in FCD type 2.
  • To consolidate recent findings on FCD type 2 pathogenesis.
  • To highlight the need for further research into specific FCD types.

Main Methods:

  • Comprehensive literature review using PubMed.
  • Analysis of 44 articles covering molecular and cellular biology.
  • Inclusion of studies using animal and human models, including iPSCs and organoids.

Main Results:

  • The mTOR pathway is a significant area of research in FCD type 2.
  • Studies span molecular, cellular, animal, and human model investigations.
  • Research on FCD type 2 has evolved since 2004, with increasing contributions from advanced techniques.

Conclusions:

  • The mTOR pathway plays a critical role in the pathogenesis of FCD type 2.
  • Advancements in techniques like iPSCs and organoids are accelerating discoveries in FCD research.
  • Continued investigation is needed to fully elucidate the specific mechanisms in different FCD types.
Keywords:
Drug-resistant epilepsyMolecular and cellular biologyPubmed

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