Glycine transporter 1 (GLYT1) encephalopathy
Evidence-based neurology checklist on glycine transporter 1 (glyt1) encephalopathy: Genetics This results from mutations of the SLC6A9 gene The gene encodes the glycine transporter 1 Neurological features Skeletal features Dysmorphic features Systemic features Glycine tests Magnetic resonance…
Genetics
- This results from mutations of the SLC6A9 gene
- The gene encodes the glycine transporter 1
Neurological features
Skeletal features
Dysmorphic features
Systemic features
Glycine tests
Magnetic resonance imaging (MRI) brain: features
Synonyms
References
- Alfallaj R, Alfadhel M. Glycine transporter 1 encephalopathy from biochemical pathway to clinical disease: review. Child Neurol Open 2019; 6:2329048X19831486.
- Kurolap A, Armbruster A, Hershkovitz T, 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; 99:1172-1180.
- Subramanian V, Kadiyala P, Hariharan P, Neeraj E. A rare case of glycine encephalopathy unveiled by valproate therapy. J Pediatr Neurosci 2015; 10:143-145.
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