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Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1

Hyun Hee Lee, Yun Jung Hur

Clin Exp Pediatr. 2016;59(Suppl 1):S29-S31. Published online November 30, 2016

Crossref 6

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures,...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S29

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