Tuberous Sclerosis and Other mTORopathies

Anna Jeong*, Michael Wong

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

Abstract

Tuberous sclerosis complex (TSC) is one of the most common causes of epilepsy due to a single-gene defect. Recent insights into the genetics and pathophysiology of TSC have identified the mechanistic target of rapamycin (mTOR) pathway as a central mediator of epileptogenesis, implicating mTOR inhibitors as a potential novel treatment for epilepsy in TSC. Furthermore, mTOR has also been implicated in other genetic diseases associated with epilepsy, collectively labeled "mTORopathies." A large number of animal models of TSC and related epilepsies due to mTORopathies have been generated, including heterozygous Tsc1 and Tsc2 mutants and a variety of conditional and inducible knockouts in different cell types in the brain. These animal models have revealed important information about cellular and molecular mechanisms of epileptogenesis in TSC and related mTORopathies and suggest potential novel therapeutic approaches for treating epilepsy in these disorders.

Original languageEnglish (US)
Title of host publicationModels of Seizures and Epilepsy
Subtitle of host publicationSecond Edition
PublisherElsevier Inc.
Pages797-810
Number of pages14
ISBN (Print)9780128040669
DOIs
StatePublished - Jan 1 2017

Keywords

  • Epilepsy
  • Focal cortical dysplasia
  • Hemimegalencephaly
  • MTOR
  • Rapamycin
  • Seizure
  • Tuberous sclerosis

ASJC Scopus subject areas

  • Neuroscience(all)

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    Jeong, A., & Wong, M. (2017). Tuberous Sclerosis and Other mTORopathies. In Models of Seizures and Epilepsy: Second Edition (pp. 797-810). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-804066-9.00054-7