P311: Clinical responses to off-label use of phenylbutyrate for STXBP1 and SLC6A1

Epileptic encephalopathies are associated with early onset epilepsy and intellectual disability. Data from preclinical models suggests a repurposed therapeutic, phenylbutyrate, may treat seizures in STXBP1 and SLC6A1 related encephalopathies. Phenylbutyrate is a chemical chaperone that is thought to work by improving cell membrane trafficking, protein function and stability, and GABA uptake in the brain. Subsequent preclinical research suggests phenylbutyrate may be used for a broader group of genetic epileptic encephalopathies.