"From Molecular Pathogenesis to 4 phenylbutyrate rescue in Genetic Epilepsies associated with Impaired GABA receptor and transporter,," by by Professor, Department of Neurology & Pharmacology, Vanderbilt University Medical Center, Vanderbilt Brain Institute

Our work has elucidated the pathophysiology underlying impaired GABAA receptors and transporters. We identified a cascade in which mutations cause protein misfolding and retention in the endoplasmic reticulum, triggering ER stress and downstream abnormalities at the cellular, circuit, and behavioral levels. Importantly, these disease mechanisms can be ameliorated and the clinical trial is promising.