目的　探讨发作性过度运动诱发性运动障碍（PED）的临床表现及SLC2A1 基因变异。方法 收集先证者及 其家系成员临床资料，对先证者基因组DNA行高通量测序，对先证者及其家系成员的SLC2A1基因特定编码区经聚合酶 链反应扩增后行一代测序验证。结果 先证者，男性，11岁； 8岁起运动后出现运动障碍。基因测序发现先证者SLC2A1 基因第7外显子存在c. 940G>A（p. Gly314Ser）杂合变异。通过美国医学遗传学与基因组学学会（ACMG）指南致病性分 析证实为致病位点。先证者之弟弟、父亲、姑姑均存在与其相同的杂合变异；其中先证者弟弟表现为癫痫；父亲和姑姑 也表现为PED。结论 明确该家系SLC2A1基因变异与遗传特征，新发现变异位点c. 940G>A（p. Gly314Ser），丰富了 SLC2A1基因变异谱。

Objective? To explore the clinical manifestations and SLC2A1 gene mutation in paroxysmal exercise-induced dyskinesia?(PED).?Methods? The?clinical?data?of?the?proband?and?his?families?were?collected.?The?genomic?DNA?of?the?proband? was?sequenced?by?high-throughput?sequencing.?The?specific?coding?region?on?SLC2A1 ?gene?of?the?proband?and?his?families?were? amplified?by?polymerase?chain?reaction?and?verified?by?the?first-generation?sequencing.?Results? The?proband?was?an?11-yearold?male?who?developed?dyskinesia?after?exercising?at?the?age?of?8.?Gene?sequencing?showed?that?the?proband?had?heterozygous? variation?of?c.?940G>A?(p.?Gly314Ser)?in?exon?7?of?SLC2A1?gene.?It?was?confirmed?as?the?pathogenic?site?by?pathogenicity? analysis?according?to?the?guidelines?of?American?College?of?Medical?Genetics?and?Genomics?(ACMG).?The?younger?brother,?father， and aunt of?the?proband?all?had?the?same?heterozygous?mutation?as?the?proband.?The?younger?brother?of?the?proband?manifested?epilepsy.? His?father?and?aunt?also?manifested?PED.?Conclusion The SLC2A1?gene?mutation?and?genetic?characteristics?of?the?family?were? clarified,?and?the?newly?discovered?mutation?site?of?c.?940G>A?(p.?Gly314Ser)?enriched?the?SLC2A1 gene mutation spectrum.