Abstract: Objective　To summarize the characteristics of phenotypes of epilepsy related to CHD2 gene mutation. Methods　A total of 18 patients of epilepsy patients with CHD2 gene mutations were collected from Jan 2014 to Mar 2019 in Peking University First Hospital. Their phenotypes were analyzed. Results　In 18 patients，the seizure onset age ranged from 3 months to 10 years 5 months，and the median age was 26.5 months. In the course of epilepsy，Generalized tonic-clonic seizures（GTCS） were observed in 11 patients，myoclonic seizures in 7 patients，focal seizures in 5 patients，atonic seizures in 4 patients and atypical absence in 4 patients. Myoclonic-atonic seizures were observed in 3 patients，and epileptic spasm in 2 patients. Video-Electroencephlogram（VEEG） were abnormal in 16 patients，all of them had epileptiform discharges during interictal phase. Eight patients were captured clinical seizures by VEEG. VEEG were normal in two patients. Motor and mental retardation presented in 15 patients. The autism features occurred in seven patients. Two patients were diagnosed with epilepsy with myoclonic-atonic seizures，two with Lennox-Gastaut syndrome，two with febrile seizures plus，and one with West syndrome. The age of the last follow-up ranged from 3 years 5 months to 18 years. Seizures were controlled more than half a year in 10 patients，and valproate and levetiracetam were effective drugs for epilepsy ralated to CHD2 gene mutations. Conclusion　Seizure types are various in epilepsy related to CHD2 gene mutations. More than half patients have multiple seizure types. Generalized seizures and myoclonic seizures are common. Most patients have developmental delay. More than half of the patients achieve seizure-free.

Key words: CHD2 gene, epilepsy, epileptic spasm, developmental delay

摘要： 目的　研究CHD2基因突变相关癫痫的临床表型特点。方法　收集2014年1月至2019年3月在北京大学第一医院就诊的18例CHD2基因突变癫痫患儿，总结其临床表型特点。结果　18例患儿癫痫发作中位起病年龄为26.5月龄。病程中出现的发作类型包括全面强直阵挛发作11例，肌阵挛发作7例，局灶性发作5例，失张力发作4例，不典型失神4例，肌阵挛-失张力发作3例，痉挛发作2例。16例患儿发作间期脑电图监测到异常放电，8例监测到临床发作，2例脑电图正常。15例患儿有不同程度的运动、智力发育落后，7例有孤独症样表现。癫痫综合征诊断符合癫痫伴肌阵挛-失张力发作2例，Lennox-Gastaut综合征2例，热性惊厥附加症2例，婴儿痉挛症1例。末次随访年龄为3岁5月龄至18岁，其中10例发作控制半年以上，丙戊酸和左乙拉西坦是治疗CHD2基因突变相关癫痫的有效药物。结论　CHD2基因突变相关癫痫发作类型多样，GTCS和肌阵挛发作常见；多数患儿存在发育落后；半数以上患儿癫痫发作可控制。

关键词: CHD2基因, 癫痫, 痉挛发作, 发育落后