关键词: Charcot-Marie-Tooth病；　GJB1基因；　中枢神经系统；　惊厥

Abstract: 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.

Key words: Charcot-Marie-Tooth disease;　gap junction protein beta 1 gene;　central nervous system;　convulsion