Pediatric epilepsy, a molecule to reduce symptoms

Research, published in Epilepsia, coordinated by theInstitute of Genetics and Biophysics 'Adriano Buzzati-Traverso' of the National Research Council in Naples (CNR-Igb), in collaboration with the Institute of Biomolecular Chemistry of the CNR in Pozzuoli (CNR-Icb), University of Naples Federico II and Irccs Neuromed in Pozzilli (Is), showed that treatment with cannabidiol (CBD), a non-psychoactive component of cannabis, is able to reduce symptoms in a preclinical model of developmental epileptic encephalopathy (DEE1). This is a rare form of pediatric epilepsy caused by mutations in the ARX gene, occurring most commonly in the first few months of life and predominantly affecting male children, causing frequent seizures and severe delay in cognitive and motor development, with sometimes fatal outcomes. "Our research represents the first experimental evidence of the efficacy of highly purified CBD in the treatment of this type of childhood epilepsy. Indeed, through the administration of cannabidiol by injection, we were able to reduce the frequency and severity of spontaneous seizures in models expressing the genetic mutation, thus improving their life expectancy," explains Lucia Verrillo of CNR-Igb, first author of the study.

"CBD led to the reduction of neuroinflammatory markers and helped microglia - cells that protect and support the functions of neurons within the central nervous system - to restore a normal shape. In addition, cannabidiol treatment was able to modulate the electrical activity of diseased neurons, acting directly on synaptic communication and transmission mechanisms," concludes Maria Giuseppina Miano, CNR-Igb researcher and research coordinator.

As Sergio Fucile, of the Laboratory of Experimental Epilepsy at Ircss Neuromed, points out, "The relevance of CBD's action in counteracting the hyperexcitability of neurons affected by ARX gene mutation encourages the development of a new therapeutic approach for seizures related to this pathology." This study, which has received support from GW Research Ltd. (now part of Jazz Pharmaceuticals), Telethon Foundation and Pnrr funds, represents an important step in the development of therapies that can counteract rare childhood epilepsies, offering new treatment prospects for children who currently have no effective therapeutic alternatives.

Research link: https://doi.org/10.1111/epi.18522