title: Tuberous sclerosis complex as a model disease for developing new therapeutics for epilepsy.
abstract: An unmet need in the treatment of epilepsy has been targeted therapies that prevent the onset or progression of seizures in the susceptible individual. We have no treatments that target the process of epileptogenesis, through which the genetically predisposed or injured brain becomes capable of generating unprovoked, recurrent seizures. Tuberous Sclerosis Complex (TSC) is a multiorgan disorder caused by a defect in the mTOR (mechanistic/mammalian target of rapamycin) pathway. Epilepsy is a prominent feature of TSC, with seizures often occurring after the diagnosis of TSC has already been made. The mTOR pathway has been studied in animal models, with evidence suggesting that downstream effectors may contribute to the mechanisms leading to seizure generation, making the mTOR pathway an attractive candidate for potentially novel and rational antiepileptogenic therapies.
authors: a Department of Neurology and the Hope Center for Neurological Disorders , Washington University School of Medicine , St. Louis , MO , USA.
authors: Anna
authors: A
authors: Jeong
authors: a Department of Neurology and the Hope Center for Neurological Disorders , Washington University School of Medicine , St. Louis , MO , USA.
authors: Michael
authors: M
authors: Wong
mesh_terms: D000818:Animals; D000927:Anticonvulsants / Q000627:therapeutic use*; D004827:Epilepsy / Q000188:drug therapy* / Q000209:etiology*; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D015398:Signal Transduction / Q000187:drug effects; D020123:Sirolimus / Q000627:therapeutic use; D014402:Tuberous Sclerosis / Q000150:complications*
chemical_list: D000927:Anticonvulsants; D007166:Immunosuppressive Agents; D020123:Sirolimus
keywords: Seizures; epilepsy; epileptogenesis; everolimus; mTOR; rapamycin; traumatic brain injury; tuberous sclerosis