Atypical GLUT1 deficiency with prominent
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Jennifer R.L. Friedman; Elizabeth A. Thiele; Dong Wang; Kara B. Levine; Erin K.
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Article
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2006
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John Wiley and Sons
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English
β 92 KB
## Abstract Glucose transport protein deficiency due to mutation in the __GLUT1__ gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10βyearβold normocephalic male with prominent ataxia, dystonia, ch