Recent advances in pathophysiology studies and treatment of epilepsy in neurocutaneous disorders

SUMMARY Introduction Epilepsy that is associated with neurocutaneous disorders seriously deteriorates quality of life and cognitive outcome of affected children. Recent advances in epilepsy pathophysiology raise hopes for better treatment results in this difficult group of patients. Aim The aim of this review is to present recent treatment recommendations as well as current research progress in the most frequent neurocutaneous disorders. Material and methods We analyzed PubMed database to select the most prominent and recent (up to 2014 year) publications on the treatment and mechanisms of epilepsy in selected neurocutaneous disorders. We aimed to emphasize evidence-based medicine recommendations as well as basic experimental studies dealing with molecular mechanisms of epileptogenesis. Discussion and conclusions Recent advances in disease-modifying treatment options such as mTOR inhibitors in patients with tuberous sclerosis complex open up new perspectives for neurologists. Traditional resective surgery has still a major role as a treatment of choice in carefully selected cases.