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.
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine , Baltimore, MD , USA.
authors.forename: Carl E
authors.initials: CE
authors.lastname: Stafstrom
authors.affiliation: Division of Pediatric Neurology, Department of Neurology, Johns Hopkins University School of Medicine , Baltimore, MD , USA.
authors.forename: Verena
authors.initials: V
authors.lastname: Staedtke
authors.affiliation: Department of Neurology, Kennedy Krieger Institute, Johns Hopkins University School of Medicine , Baltimore, MD , USA.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Comi
keywords: Sturge–Weber syndrome; epilepsy; mechanistic target of rapamycin; neurocutaneous disorder; neurofibromatosis; seizure; tuberous sclerosis complex