Background: Glucose transporter type 1 deficiency syndrome is due to de novo mutations in the SLC2A1 gene encoding the glucose transporter type 1.
Phenomenology Shown: Paroxysmal motor manifestations induced by exercise or fasting may be the main manifestations of glucose transporter type 1 deficiency syndrome.
Educational Value: Proper identification of the paroxysmal events and early diagnosis is important since the disease is potentially treatable.
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| http://dx.doi.org/10.7916/D89W0F96 | DOI Listing |
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