目的　分析X连锁Charcot-Marie-Tooth病1型（CMT1X）的发病机制及出现惊厥的可能原因。方法　回顾分 析1例合并惊厥发作的CMT1X患儿的临床特征以及基因检测结果，并复习相关文献。结果　男孩， 7岁6个月，以可逆性 脑白质病变为首发症状且出现惊厥；基因检测显示患儿缝隙连接蛋白Bl （GJB1）基因发生突变，C.425G>A（p.R142Q）。 诊断为CMT1X。患儿与既往所报道病例的临床症状有差异。结论　以惊厥为首发症状的CMT1X，系GJB1基因突变导 致通道功能障碍所致，相同突变可出现不同临床表现。

Objective　To explore the pathogenesis of X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) and the possible causes of convulsion. Method　The clinical manifestations of CMT1X with convulsions in a child were retrospectively analyzed and the related literature was reviewed. Results　The boy, aged 7 years and 6 months, presented with reversible cerebral white matter lesions and convulsion as the first symptom. Genetic testing revealed a mutation in the gap junction protein beta 1 (GJB1) gene, c.425G>A (p.R142Q), and the child was diagnosed as CMT1X. The clinical symptoms of the child were different from those reported previously. Conclusions　CMT1X, with convulsion as the first symptom, is caused by channel dysfunction caused by GJB1 gene mutation, and the same mutations may present different clinical manifestations.