目的：探讨葡萄糖转运体1缺陷综合征（GLUT1-DS）的临床特征与治疗。方法：报道3例SLC2A1基因突变所致GLUT1-DS患儿的临床和遗传学资料，并复习相关文献。结果：男1例，女2例，首次就诊年龄分别为2岁7个月、3岁7个月、1岁3个月；首次就诊主诉导致诊断分别为：热性惊厥、脑性瘫痪、癫痫；基因检测原因分别为：热性惊厥患儿病程中伴有双眼上翻且脑脊液检查葡萄糖降低、脑性瘫痪患儿语言运动发育落后且病程中伴有发作性下肢无力、癫痫患儿经丙戊酸钠治疗后仍频繁抽搐且自幼语言运动发育落后；基因检测结果均为SLC2A1新发突变，生酮饮食治疗有效。结论：GLUT1-DS具有不同临床表现，患儿出现发作性症状（惊厥或运动障碍）伴语言运动发育落后时，应考虑GLUT1-DS，基因检测有助于确诊，生酮饮食治疗有效。

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