Paroxysmal Exercise-induced Dyskinesias Caused by GLUT1 Deficiency Syndrome

GLUT1缺乏综合征引起的阵发性运动诱发性运动障碍

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Abstract

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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