Epilepsy and inborn errors of metabolism: clinical and electroencephalographic features

Clinical and electroencephalographic phenotypes of the epilepsy in patients with inborn errors of metabolism are increasingly reported in the literature. The attempt to define several, disease-specific syndromes is a crucial point to allow early diagnosis and, when it is available, to perform a mirate treatment of the underlying disorder. Either dietary treatment or vitamin and cleasing agents supplementation may dramatically improve clinical and epileptic manifestations in particular if they are associated to antiepileptic drugs. The early identification of an underlying IEM in a patient with otherwise unexplained epilepsy may also address the choice of the antiepileptic treatment. Here we reviewed the main epilepsy syndromes associated with IEM according to their clinical and EEGgraphic features.