中文摘要：

目的研究儿童交替性偏瘫（AHC）并癫痫的临床特点及其与ATP1A3基因突变类型的相关性。方法收集2005年8月至2015年11月在北京大学第一医院儿科就诊的AHC患儿的临床资料及外周血DNA，采用PCR扩增和Sanger测序的方法筛查ATP1A3基因突变。结果共收集93例AHC患儿，其中合并癫痫者14例（15．1％）。首次癫痫发作的年龄为出生6h-6岁。癫痫发作类型包括局限性发作9例，全面强直一阵挛发作（GTCS）7例，不典型失神发作1例，同时具有2种发作类型者3例；有癫痫持续状态病史者11例。13例行脑电图（EEG）检查，5例发现异常。EEG异常表现为背景活动减慢5例；发作间期3例有多灶性或广泛性棘波、棘慢波，1例为弥散性慢波；1例监测到不典型失神发作，患儿表现为反应迟缓，动作减少，持续35min，同期EEG为广泛的2．0—2．5Hz棘慢波发放，符合非惊厥性癫痫持续状态。其余8例EEG正常。ATP1A3基因突变筛查，发现14例有癫痫发作的患儿均携带ATP1A3基因突变，且证实均为新生突变，共发现4种突变类型，均为错义突变，其中E815K突变占11例，D801N、L839P和E277K各1例。93例AHC患儿中，携带E815K突变者为18例，其中11例（61．1％）出现癫痫发作。结论AHC并癫痫者起病年龄可早至新生儿期，主要为局限性发作和GTCS，且易发生癫痫持续状态；发作间期EEG多数正常；AHC并癫痫者携带ATP1A3基因E815K突变比例最高。

英文摘要：

Objective To analyze the clinical features and the genotype - phenotype correlations of ATP1A3 mutations in alternating hemiplegia of childhood （AHC） patients with epilepsy. Methods The clinical data and pe- ripheral blood of AHC patients in Department of Pediatrics, Peking University First Hospital from August 2005 to No- vember 2015 were collected and analyzed. Mutations in ATP1A3 were screened by Sanger sequencing and PCR amplifi- cation. Results A total of 93 AHC patients were recruited. Fourteen patients （ 15.1% ） had concurrent epilepsy. The age of seizure onset ranged from 6 hours to 6 years. Focal seizure was observed in 9 cases, generalized tonic - clonic sei- zures （GTCS） in 7 cases, and atypical absence was found in 1 case. Three of those patients had 2 types, and 11 patients experienced status epilepticus during the course. Electroencephalography （EEG） was performed in 13 cases. EEG were abnormal in 5 patients. The background activity was slow in 5 cases. Multiple focal or generalized spikes were found in 3 patients and diffused slow waves in 1 patient. Nonconvulsive status epilepticus（ atypical absence status epilepticus） was monitored in 1 patient,whose actions were reduced and response slowed in the next 35 min while the EEG moni- tored 2.0 - 2.5Hz generalized spike and waves. EEG were normal in 8 cases. ATP1A3 mutations were identified in 14 patients with epilepsy. Four types of missense mutations were found, including mutation E815K in 11 patients. Mutation D801N,L839P, and E277K were detected in one patient, respectively. In 93 AHC patients, 18 patients were found with ES15K mutation,and ll of them （61.1%） had epilepsy. Conclusions The age of seizure onset in AHC patients could happen as early as neonatal period. Focal seizures and GTCS are the two most common types in AHC patients with epilepsy and these patients often experienced status epilepticus. Most of their interictal EEG were normal. AHC patients with epilepsy are more likely to carry ATP1A3 gene E815K mutation.