Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of
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...
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Format: | Book |
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Korean Pediatric Society,
2016-11-01T00:00:00Z.
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A1234.567 |
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