A look back at the Dravet Syndrome Alliance Days

On the occasion of the 13th edition of the Dravet Syndrome Alliance Days, Prof. Rima Nabbout, professor of pediatric neurology and researcher at Institut Imagine, and the team of the Reference Center for Rare Epilepsies at the Necker-Enfants malades AP-HP Hospital (CRéER) were present to present the different manifestations and the impact of this syndrome, as well as the need to continue research and the development of new therapies. 150 people were present and 35 followed the event remotely.

Published on 12.12.2022

Research Acceleration

Learn more about the Dravet Syndrome Alliance Days.

Dravet syndrome, an epileptic and developmental encephalopathy of genetic origin

Prof. Rima Nabbout presented with her two colleagues from the CréER-Necker Reference Center, Dr. Lisa Ouss, child psychiatrist, and Ms. Delphine Breuillard, doctor of neuropsychology, the impact of seizures and the genetic cause of this syndrome (pathogenic variant in the SCN1A gene) on psychomotor development, co-morbidities, and quality of life of patients.

Dravet syndrome is an epileptic and developmental encephalopathy of genetic origin in which children present with epilepsy that is often drug resistant and, from the early years, with slowed development, several types of seizures that are often sensitive to fever, and an increased risk of SUDEP (sudden unexplained death in epilepsy)

Teams dedicated to the research and management of this syndrome

The CréER-Necker reference center has a team of expert clinicians and researchers, as well as health professionals dedicated to the management of this syndrome and rare epilepsies. The team follows a cohort of about 100 patients with this syndrome. 

Pr Nabbout has been the principal investigator of several clinical trials on this syndrome in recent years, which have led to the marketing of new drugs. She has also coordinated, with her team and the Dravet Syndrome Alliance, the national protocol for diagnosis and care (PNDS) dedicated to this syndrome. Learn more about this PNDS.

In order to better understand the natural history of Dravet syndrome, and given the urgent need to develop adapted therapeutic trials, Prof. Nabbout announced that the CRéER-Necker team is actively pursuing research, in collaboration with families and researchers, on a national and international level.

Research on rare epilepsies advances

Prof. Rima Nabbout is a professor of pediatric neurology, coordinator of the reference center for rare epilepsies at the Hôpital Necker-Enfants malades AP-HP, and a researcher at the Institut Imagine. Within the translational research team on neurological disorders at the Institut Imagine, she deploys integrated approaches to make the link between pathophysiology and genetics, to better characterize the different forms of epilepsy and to determine the specific pathogenic mechanisms. Learn more about her work.

She is also, with Edor Kabashi, the Geen-DS Chair in Epilepsy Genetics at the Imagine Institute, supported by the FAMA Fund of the Swiss Philanthropy Foundation. Learn more about the chair.