Mathieu Milh is Professor of Pediatric Neurology at the University of Aix-Marseille and Timone University Hospital in Marseille, southern France. He heads the national reference center for rare epilepsies and the national reference center for rare and severe developmental disorders. He specializes in early-onset monogenic epilepsies. He has contributed to describe the phenotype of STXBP1-related disorders, and in particular the mode of onset of the disease, via a cohort of French patients followed in various centers. He coordinates the clinical part of a national research program on STXBP1-related disorders, in collaboration with INMED, a developmental neuroscience research laboratory in Marseille (Dr. Pierre-Pascal Lenke Sentini). He works closely with the French association of STXBP1 patients and families, with whom he regularly organizes national meetings covering all aspects of this condition.