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Focal brain malformations: seizures, signaling, sequencing

Peter B Crino1

  • 1Department of Neurology, PENN Epilepsy Center, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA. peter.crino@uphs.upenn.edu

Epilepsia
|September 19, 2009
PubMed

Insights

Focal brain malformations causing intractable epilepsy may stem from overactive mammalian target of rapamycin (mTOR) signaling. Targeting this pathway offers new therapeutic strategies for epilepsy treatment.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Epileptology

Background:

  • Focal malformations of cortical development frequently cause intractable epilepsy in pediatric and adult patients.
  • Surgical intervention is often necessary for managing epilepsy associated with these malformations.

Purpose of the Study:

  • To explore the role of the mammalian target of rapamycin (mTOR) pathway in the pathogenesis of focal cortical malformations.
  • To investigate the potential of targeting mTOR signaling for novel epilepsy therapies.

Main Methods:

  • Review of recent studies investigating cell signaling alterations in cortical malformations.
  • Analysis of evidence for mTOR pathway hyperactivity in conditions like focal cortical dysplasias and tuberous sclerosis complex.

Main Results:

  • Hyperactive mTOR signaling is a common feature in various focal cortical malformations, suggesting a spectrum of "TORopathies".
  • These malformations share characteristics such as disorganized cortical lamination, cytomegaly, and drug-resistant seizures.

Conclusions:

  • Alterations in mTOR activity represent a key pathogenic pathway for focal brain malformations and associated epilepsy.
  • Targeting the mTOR pathway with agents like rapamycin presents a promising therapeutic avenue for epilepsy treatment in affected individuals.

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