目的 研究先天性肌强直（MC）患儿的临床特点、基因检测结果和奥卡西平治疗效果。方法 回顾性分析总结了3例MC患儿的临床表现及治疗经过，所有患儿均进行的二代测序基因检测。结果 3例患儿均有运动障碍表现，最初被误诊为发作性运动诱发性运动障碍（PKD），但后来通过基因检测发现CLCN1基因存在突变，确诊为MC。3例经奥卡西平治疗后症状均缓解。结论 MC患者表现出“热身现象”、家族病史和特定的基因型，临床表现多样化。药物治疗如美西律和乙酰唑胺对于MC患者有效，但需根据患者具体情况进行个体化治疗。早期诊断和正确治疗对于提高患者生活质量和预后至关重要。本研究初步认为奥卡西平治疗MC有效，对于临床实践具有一定的指导意义。

Objective To investigate the clinical characteristics, genetic profiles, and therapeutic outcomes of oxcarbazepine in children with congenital myotonia (MC). Methods A retrospective analysis was conducted on three pediatric MC cases, summarizing their clinical manifestations and treatment courses. All patients underwent next-generation sequencing (NGS) for genetic diagnosis. Results All three cases initially presented with movement disorders and were misdiagnosed as paroxysmal kinesigenic dyskinesia (PKD). Genetic testing revealed pathogenic variants in the CLCN1 gene, confirming MC diagnosis. Remarkably, all patients achieved symptomatic relief after oxcarbazepine administration. Conclusions MC patients exhibit diverse clinical features, including the "warm-up phenomenon," positive family history, and specific genotypes. While medications such as mexiletine and acetazolamide are effective, individualized treatment strategies are essential. Early diagnosis and proper intervention are crucial for improving patients' quality of life and prognosis. This study preliminary report the efficacy of oxcarbazepine in MC treatment, providing valuable insights for clinical practice.