Phenylbutyrate-Responsive SLC6A1-Related Neurodevelopmental Disorder Associated With a Familial Variant.
SLC6A1-related neurodevelopmental disorder is a synaptopathy characterized by developmental delay, epilepsy, and neurobehavioral manifestations with marked phenotypic variability. Variants impair γ-aminobutyric acid (GABA) transporter-1 (GAT-1) folding and trafficking, reducing inhibitory neurotransmission and promotin...