Epilepsy expands the phenotype of L-arginine:glycine amidinotransferase deficiency
Epilepsia. 2025 Jul 17. doi: 10.1111/epi.18565. Online ahead of print. ABSTRACT OBJECTIVE: L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare autosomal recessive disorder affecting creatine biosynthesis, …