Alfadhel M et al. Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. Hum Genet. 2016;135(11):1263-8. PMID: 27481395.

Alfallaj R & Alfadhel M. Glycine Transporter 1 Encephalopathy From Biochemical Pathway to Clinical Disease: Review. Child Neurol Open. 2019;6:2329048X19831486. PMID: 30815509.

Kurolap A et al. Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine. Am J Hum Genet. 2016;99(5):1172-80. PMID: 27773429.

Mademont-Soler I et al. GLYT1 encephalopathy: Further delineation of disease phenotype and discussion of pathophysiological mechanisms. Am J Med Genet A. 2021;185(2):476-485. PMID: 33269555.

Kurolap A, Hershkovitz T, Baris HN. GLYT1 Encephalopathy. 2017. In: Adam MP et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: