Purpose of review
To review the evolution of the concept of epileptic encephalopathy during the course of past years and analyze how the current definition might impact on both clinical practice and research.
Developmental delay in children with epilepsy could be the expression of the cause, consequence of intense epileptiform activity (seizures and EEG abnormalities), or because of the combination of both factors. Therefore, the current International League Against Epilepsy classification identified three electroclinical entities that are those of developmental encephalopathy, epileptic encephalopathy, and developmental and epileptic encephalopathy (DEE). Many biological pathways could be involved in the pathogenesis of DEEs. DNA repair, transcriptional regulation, axon myelination, metabolite and ion transport, and peroxisomal function could all be involved in DEE. Also, epilepsy and epileptiform discharges might impact on cognition via several mechanisms, although they are not fully understood.
The correct and early identification of cause in DEE might increase the chances of a targeted treatment regimen. Interfering with neurobiological processes of the disease will be the most successful way in order to improve both the cognitive disturbances and epilepsy that are the key features of DEE.