Ascending Investigator

Jean-Francois Perrier

Innovative Therapies for STXBP1 Related Neurodevelopmental Encephalopathy

Professor
University of Copenhagen

STXBP1 encephalopathy, a rare childhood brain disorder, triggers relentless seizures and severe developmental delays. No cure exists. We will test L-serine—a safe, widely available amino acid that boosts key brain receptors—to see if it calms over active circuits. First in mice, then in a small “one child at a time” trial, we’ll measure seizure control and development. If effective, L-serine could become the first targeted therapy, offering families rapid, real hope.

Jean Francois Perrier