目的 分析CHD2基因变异相关癫痫患儿的临床特点。方法 通过对7例CHD2基因变异相关癫痫患儿的长期随访观察，分析总结其临床特点及治疗方案效果评价。结果 7例患儿癫痫发作中位起病年龄为3岁2个月。5例患儿病程中出现2种及以上的发作类型，以全面强直阵挛发作为主。7例患儿有程度不等的运动、智力及语言发育落后，1例有孤独症倾向。5例患儿发作间期脑电图监测到异常放电，4例有临床发作。头颅MRI均无特异性改变。4例患儿需加用2种以上抗癫痫药物，治疗后发作次数减少；1例患儿对抗癫痫药物不敏感，最后启动生酮饮食治疗，目前无发作。末次随访年龄为2~7岁，其中3例发作控制半年以上，丙戊酸和左乙拉西坦是治疗CHD2基因变异相关癫痫的有效药物。结论 CHD2基因变异相关癫痫患儿起病年龄较早，发作类型多样，多为难治性癫痫，预后较差，应尽早治疗干预。

Objective To analyze the clinical features of epilepsy in children with CHD2 gene variation. Methods The clinical characteristics and treatment efficacy of 7 children with epilepsy related to CHD2 gene variation were analyzed and summarized. Results The median onset age of seizure in 7 children was 3 years and 2 months old. There were two or more seizure types during the course of the disease in 5 children, and the main seizure was generalized tonic-clonic seizure. Seven children had varying degrees of motor, intellectual and language retardation, and one had a tendency to autism. Abnormal discharge was detected by interictal electroencephalogram in 5 children, and clinical episodes were observed in 4 children. There were no specific changes in skull MRI. More than 2 antiepileptic drugs were needed in 4 children, and the number of seizures decreased after treatment. One patient was not sensitive to antiepileptic drugs and was finally treated with ketogenic diet. At present, the child did not have seizures. The age of the last follow-up was 2 to 7 years old, and seizures were controlled for more than half a year in 3 children. Valproate and levetiracetam are effective drugs for the treatment of CHD2 variation-related epilepsy.Conclusions Children with epilepsy related to CHD2 gene variation have early onset age and various seizure types. Most of the children have refractory epilepsy and poor prognosis, so early intervention should be given.