A study by Prof. Frank Bosmans and colleagues, involving several EFAR researchers, has been published in Neurobiology of Disease: A homozygous GABRA2 variant associated with infantile spasms evolving to Lennox-Gastaut syndrome alters receptor gating.
The paper is the outcome of a particularly meaningful ten-year journey, following a patient whose epilepsy evolved from infantile spasms to Lennox–Gastaut syndrome. By combining long-term clinical observations with experimental research, the team shows that the identified GABRA2 variant alters the gating of the GABA-A receptor, contributing to a better understanding of these devastating childhood epilepsies.
A sincere thank you to all collaborators, and especially to the patient and family who made this work possible. The article is available open access.