Severe epilepsy: the hope of targeted therapies

Epileptic seizures, intellectual and cognitive impairment, behavioral and motor disorders (…). Epileptic encephalopathy with neurodevelopmental disorder, although one of the most serious forms of epilepsy, is still poorly understood by science. The Imagine Institute at the Necker Hospital (Paris), specializing in research on genetic diseases, took up the subject. To do this, the Parisian institute has developed a patronage chair, ” no-DS » – a system financed by several companies, sponsors, etc. – aimed at developing research and education around this disease. Inaugurated on March 18, 2022, the project will be co-directed by a professor of pediatric neurology, Rima Nabbout, and a brain specialist research director, Dr. Edor Kabashi.

almost zero

Medicine today starts almost from scratch with regard to the understanding of the disease and its treatment. However, the recent identification of genetic causes opens the way to the arrival of potentially more effective targeted therapies. Scientists have already identified that the patients concerned have genetic defects ” affecting neurons in the channels through which nerve signals pass through the brain “, according to Imagine. The new research system should therefore make it possible to go further in understanding the causes of the disease by identifying groups of patients with a similar profile. The highlighting of ” pathological mechanisms should make it possible to develop and test new treatments, including gene therapy (article linked below).

Basic treatment crisis treatment

The co-directors of the patronage chair assure us: ” Treatment of these developmentally impaired epilepsies has remained largely empirical until now, using drugs developed to treat the seizures rather than the underlying cause. “, like 85% of genetic diseases which do not yet have a curative treatment when they affect nearly three million people in France (article in link below). Thanks to this new lever, scientists give themselves between three and five to achieve decisive advances.

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