Jazz Pharma Symposium: Developmental Epileptic Encephalopathies in The Genomic Era:  From Concepts to Precision Medicine 

Administrator: Jo Wilmshurst, South Africa & Hasan Tekgul, Turkey

Chairs: Jo Wilmshurst (South Africa ) and Hasan Tekgul (Turkey)
SIG: Members of the ICNA / TCNA  and the EPISTEP* Study Group-Turkey

Background: The landscape of developmental and epileptic encephalopathies (DEEs) has expanded due to genetic tests, making rational genetic investigation necessary. With the development of genetics as well as next-generation sequencing, many specific epileptic encephalopathies have been related to numerous genes considered causative.

The importance of "electroclinical syndromes " has been reduced in favor of the new genetic tests. However, the association of clinical, EEG and neuroimaging data should be interpreted with a positive genetic test (next generation sequencing, chromosomal microarray analysis, and whole exome sequencing). The new ILAE classification stands as a mirror of modern epileptology, but the genetic tests are negatively influencing some of the definitions contained in the concept of " DEEs". Today we know that some DEEs are associated with several genes. For instance, the Dravet Syndrome could be due to mutations in the SCN1A, SCN2A, and SCN1B genes. Therefore, our question when we talk about an SCN2A encephalopathy is, are we referring to Dravet syndrome ?

Objectives of the Special Interest Group (SIG) Meeting ( 60 min)

• To discuss the journey from the concept to the new ILAE classifications
• To evaluate the electroclinical predictors of positive genetic investigation in DEE while preserving the role of electroclinical syndromes,
• To define the role of precision medicine in DEEs

Dr. Elaine Wirrel ( 20 min) : discuss the new proposal of ILAE on the "DEEs" concept and share our impressions to open a constructive debate on this topic.
Dr. Federico Vigevano (25 min) : Essentials of precision medicine in DEEs. Which DEEs are within the scope of precision medicine.?
5 min Introduction by chairs  +  10 min Discussion 

(*) The EPISTEP Study Group consists of 20 senior and 50 young pediatric neurologists from Turkey. The group is going to present two multicenter studies in the  platform sessions. 

Jazz Pharmaceuticals has provided technical and logistical support for this educational symposium but was not involved in developing the content.