Rare epilepsies, where do we stand?

Epilepsy affects more than 500,000 people in France and is the neurological disease that affects the most people in Europe. On the occasion of International Epilepsy Day on Monday, February 8, 2021, rare epilepsy experts at the Imagine Institute and Hôpital Necker-Enfants malades AP-HP have taken stock of the progress of research into these pathologies, their functioning, causes and potential treatments.

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Research Acceleration

Exploring the underlying mechanisms of epilepsy

At the Imagine Institute, a team led by Edor Kabashi is dedicated to translational research on neurological diseases. Within this team, Prof. Rima Nabbout coordinates a research project on epilepsy. Lauralee Robichon, doctoral student, and Mathieu Kuchenbuch, post-doctoral student in the team, review their research projects and the complementarity of their approaches to explore and better understand the mechanisms at the origin of epilepsy.

Lauralee Robichon develops zebrafish models to study developmental and epileptic encephalopathies, with a particular focus on the analysis of genes involved in neuronal excitability. Mathieu Kuchenbuch's mission is the computer modeling of rare epilepsy. This allows to complete existing models, to reproduce the behavior of neurons, and to reproduce electroencephalograms (EEG), in order to discover the mechanisms that cause changes in brain electricity.

To learn more about epilepsy, its forms, causes, diagnosis and treatment, visit our An update on research on Epilepsy page

You can also review the scientific meeting of the Imagine Institute devoted to rare epilepsy in children, presented in 2016 by Pr Rima Nabbout and Nathalie Boddaert.

Towards a personalized medicine for epilepsies

In a publication in the journal Nature Reviews Neurology, Prof. Rima Nabbout, a neuropaediatrician at the Hôpital Necker-Enfants malades AP-HP, head of the reference center for rare epilepsy (CRéER), and coordinator of the epilepsy research project in the laboratory for translational research on neurrological diseases at the Imagine Institute, and Dr. Mathieu Kuchenbuch, a neuropediatrician, neurophysiologist at the reference center for rare epilepsy, and post-doctoral fellow in Edor Kabashi's team at Imagine, review the progress of research and stress the importance of adopting personalized medicine for the treatment of epilepsy.

 "Over the past decade, advances in genetics, neuroimaging and EEG have made it possible to identify the etiology of epilepsy earlier. At the same time, advances in the study of experimental models of epilepsy have led to a better understanding of the underlying mechanisms of this disease and the identification of therapies that specifically target them. We are now seeing the impact of these advances in our daily clinical practice.

It is therefore time for a paradigm shift in the treatment of epilepsy, moving from a reactive attitude, treating patients after the onset of epilepsy marked by the onset of seizures, to a more proactive attitude more broadly integrated into a "4P medicine" type approach (personalized, predictive, preventive and participatory). This approach places patients at the center of their own care and ultimately aims to prevent the onset of epilepsy.

This will be achieved by tailoring epilepsy treatments not only to a given syndrome but also to a given patient, moving from generic anticonvulsant treatments to personalized treatments designed to target the specific etiology of a given patient. In this review, we present the current status of this ongoing revolution, highlighting the impact on clinical practice
 

Prof Rima Nabbout and Dr Mathieu Kuchenbuch

Impact of predictive, preventive and precision medicine strategies in epilepsy

Rima Nabbout, Mathieu Kuchenbuch

PMID: 33077944