【摘要】 目的 研究CHD2基因变异相关癫痫患者的临床表型及基因型特点。方法 对6例CHD2基因变异相关癫痫患者的临床表现、脑电图、基因特点及抗癫痫发作药物疗效等进行回顾性总结分析。结果 6例患儿中男5例、女1例，癫痫起病年龄为1岁8个月至12岁。癫痫发作类型包括局灶性发作及全面性强直阵挛发作各3例次，眼睑肌阵挛伴或不伴失神发作2例次，不典型失神发作、痉挛发作、肌阵挛发作及强直发作各1例次。3例诊断为癫痫综合征，其中2例为Jeavons综合征，1例为Lennox-Gastaut综合征；2例具有光敏性。共患病中智力障碍6例，注意力缺陷多动障碍3例，孤独症谱系疾病2例，精神障碍1例。6例CHD2基因变异中4例为新发突变，2例为母源；其中无义突变3例，错义突变2例，片段缺失1例。末次随访年龄5岁至15岁10月龄，5例患儿抗癫痫药物规律治疗，4例有效，其中2例癫痫发作控制超2年，1例控制1年8月。结论 癫痫发作是CHD2基因变异的常见表型，癫痫起病年龄差别较大，表型为Jeavons综合征者预后不良，丙戊酸钠对CHD2基因变异相关癫痫疗效相对较好。精神障碍为罕见临床表型。更多还原

【Abstract】 Objective To analyze the clinical features and genetic characteristics of patients with epilepsy associated with CHD 2 gene variants. Methods The clinical features, electroencephalogram(EEG), genotypes and responses to the anti-seizure medications(ASM) of 6 patients with CHD 2 gene variants were retrospectively analyzed. Results The onset age of seizures in the 6 patients( 5 males and 1 female) ranged from 20 months to 12 years. Multiple seizure types were observed, including focal seizures in 3 cases, generalized tonic-clonic seizures in 3 cases, eyelid myoclonus with or without absence seizures in 2 cases, atypical absence seizures in 1 case, epileptic spasms in 1 case, myoclonic seizures in 1 case and tonic seizures in 1 case. Three patients were diagnosed with epilepsy syndrome, of which 2 were Jeavons syndrome and 1was Lennox-Gastaut syndrome. Two cases were photosensitive. All 6 patients had comorbidities, including 6 patients 6 were intellectual disability, 3 attention deficit hyperactivity disorder, 2 autism spectrum disorders, and 1 mental disorder. 4 patients carried de novo mutations and the other 2 were maternal origin in the CHD 2 gene. Of these, 3 were nonsense variants, 2were missense variants and 1 was 3. 58-Mb deletion including CHD 2. Within the follow-up of 5 years to 15 years, 4 of the 5patients were effective with regular ASM. Two patients achieved seizure-free more than 2 years, 1 patients achieved seizurefree more than 1 year and 8 months. Conclusion Epileptic seizures are common clinical phenotype of patients with CHD 2gene variants. The common seizure types include focal and generalized tonic-clonic seizures, and the age of onset of epilepsy varies widely. Patients with Jeavons syndrome have poor prognosis. Valproate may show a positive effect on epilepsy with CHD 2 gene variation. Mental disorder is a rare clinical phenotype.更多还原