Epilepsy mechanisms in neurocutaneous disorders: Tuberous sclerosis complex, neurofibromatosis type 1, and sturge-weber syndrome

Research output: Contribution to journalReview article

Abstract

Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders. Potential routes for target-specific treatments are emerging as the genetic and molecular pathways involved in neurocutaneous disorders become increasingly understood. This review explores the clinical features and mechanisms of epilepsy in three common neurocutaneous disorders-TSC, neurofibromatosis type 1, and SWS.

Original languageEnglish (US)
Article number87
JournalFrontiers in Neurology
Volume8
Issue numberMAR
DOIs
StatePublished - Mar 17 2017

Fingerprint

Sturge-Weber Syndrome
Neurocutaneous Syndromes
Tuberous Sclerosis
Neurofibromatosis 1
Epilepsy
Brain
Sirolimus
Skin Diseases
Molecular Biology
Seizures

Keywords

  • Epilepsy
  • Mechanistic target of rapamycin
  • Neurocutaneous disorder
  • Neurofibromatosis
  • Seizure
  • Sturge-Weber syndrome
  • Tuberous sclerosis complex

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

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title = "Epilepsy mechanisms in neurocutaneous disorders: Tuberous sclerosis complex, neurofibromatosis type 1, and sturge-weber syndrome",
abstract = "Neurocutaneous disorders are multisystem diseases affecting skin, brain, and other organs. Epilepsy is very common in the neurocutaneous disorders, affecting up to 90% of patients with tuberous sclerosis complex (TSC) and Sturge-Weber syndrome (SWS), for example. The mechanisms underlying the increased predisposition to brain hyperexcitability differ between disorders, yet some molecular pathways overlap. For instance, the mechanistic target of rapamycin (mTOR) signaling cascade plays a central role in seizures and epileptogenesis in numerous acquired and genetic disorders, including several neurocutaneous disorders. Potential routes for target-specific treatments are emerging as the genetic and molecular pathways involved in neurocutaneous disorders become increasingly understood. This review explores the clinical features and mechanisms of epilepsy in three common neurocutaneous disorders-TSC, neurofibromatosis type 1, and SWS.",
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