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Article Abstract
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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6493638 | PMC |
| http://dx.doi.org/10.1111/j.1755-5949.2012.00297.x | DOI Listing |
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Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a disorder caused by variants in the SLC2A1 gene. Clinical features are heterogeneous, from the classic presentation to milder later-onset phenotypes. We describe the case of a male patient with adult-onset paroxysmal dyskinesia in a mild phenotype of GLUT1DS (NM_006516.
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