A New Type of Blood–Brain Barrier Aminoacidopathy Underlies Metabolic Microcephaly Associated With SLC1A4 Mutations Get Access Arrow

Scientists examined the phenotype and metabolic profile of three Slc1a4 mouse models, including a constitutive Slc1a4-KO mouse, a knock-in mouse with the major human Slc1a4 mutation, and a selective knockout of Slc1a4 in brain endothelial cells.