Authors: Moavero R., Bombardieri R., Marciano S., Cerminara C., Curatolo P.

J Pediatr Epilepsy, 2016;05(02):064-9


Tuberous sclerosis complex (TSC) is associated with a high rate of epilepsy, which often presents in the first month of life. An early diagnosis of TSC can allow a close electroencephalography monitoring and a prompt detection of subtle or subclinical seizures, thus guaranteeing a prompt treatment. Seizures in TSC are caused by an imbalance between excitation and inhibition, which can be considered as the final step of the genetic mutation and the subsequent overactivation of the mammalian target of rapamycin pathway. Epilepsy is often associated with cognitive and behavioral comorbidities, including learning disability, autism, and attention deficit/hyperactivity disorder. A prompt treatment of early-onset seizures is able to reduce the risk of a subsequent epileptic encephalopathy and cognitive and behavioral sequelae, but it cannot totally revert the final outcome. Treatment options for epilepsy include antiepileptic drugs, epilepsy surgery, ketogenic diet, and vagus nerve stimulation, but even after their application about two-thirds of patients still continue to present seizures. All these treatment options represent symptomatic treatment acting on seizures but not on the underlying cause of epilepsy. Mammalian target of rapamycin inhibitors represent a potential novel treatment strategy able to target the pathophysiologic mechanisms underlying epilepsy and other TSC-related manifestations.