Precision medicine in epilepsy—where are we now?

Abstract

Developmental and epileptic encephalopathies of infancy comprise a heterogeneous group of neurodevelopmental disorders characterized by marked epileptic activity associated with developmental regression. The increasing number of known genes and the pathophysiological mechanism drive the way toward novel precision therapies. An increasing number of reports on specific treatments open new pathways for disease modifying therapies that need international collaborative studies to provide evidence in these rare genetic diseases.