Developmental and  Epileptic Encephalopathies:  What We Know and What We  Do Not Know

Developmental and Epileptic Encephalopathies: What We Know and What We Do Not Know

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Session Type
Plenary (Awards)
CME Available
Tuesday 20 October 2020
6:00 AM – 6:45 AM
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Developmental and Epileptic Encephalopathies: What We Know and What We Do Not Know
Nicola Specchio, MD, PhD
Bambino Gesu’ Children’s Hospital, IRCCS, Rome, Italy

Course Description

To review the evolution of the concept of Epileptic Encephalopathy (EE) 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 etiology, consequence of intense epileptiform activity (seizures and EEG abnormalities), or due to the combination of both factors.

Therefore, the current ILAE classification identified three electro-clinical 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 a etiology 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.

Learning Objectives

  1. Correctly define early onset severe epilepsies distinguishing conditions where epilepsy and epileptiform abnormalities are responsible for the cognitive decline from conditions where the etiology is the major player in the cognitive dysfunctions.
  2. Be updated regarding new neurobiological process of genetic origin which are responsible of developmental and epileptic encephalopathy.

Impact Statements

  1. Diagnose different types of developmental and epileptic encephalopathy.
  2. Improve their knowledge on specific etiologies and targeted therapies in developmental and epileptic encephalopathies.


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