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目的:分析生殖系n PIGA基因突变患儿的临床表型及基因突变特征。n 方法:对2014年1月至2020年6月北京大学第一医院诊治的10例n PIGA基因突变患儿的临床表现、血液生化、脑电图(EEG)、神经影像学及基因检测结果等进行分析。n 结果:10例均为男童。10例均出现癫痫发作及重度发育迟缓，5/8例表现出肌张力减低，4/9例有特殊面容或多器官异常。癫痫发作起病年龄为1个月28 d～10个月，平均年龄为4.8个月。癫痫发作类型多样，且均有局灶性发作，6/10例有热敏感性。9/10例起病时发作间期EEG为弥散性慢波混合局灶或多灶性放电。44.4%(4/9例)的患儿头颅磁共振成像(MRI)结果为蛛网膜下腔增宽，2例血清碱性磷酸酶(ALP)轻度升高。10例经基因分析证实均携带n PIGA杂合变异，共发现8种突变位点，其中7种国际上尚未见报道。4例表型诊断为多发先天性畸形-肌张力低下-癫痫综合征2(MCAHS2)，5例表型为无畸形的智力障碍和癫痫、其中1例癫痫符合West综合征，1例表型未能归类。n 结论:本研究中携带n PIGA基因突变患儿的癫痫发作以局灶性发作为主，并常有热敏感性，发作间期EEG以弥散性慢波混合局灶或多灶性放电为特征。头颅MRI异常以蛛网膜下腔增宽最为常见。临床表型仅部分病例符合典型的MCAHS2，较多为无畸形的智力障碍和癫痫表型。n “,”Objective:To analyze the clinical phenotype and genetic characteristics of children with germline n PIGA gene mutations.n Methods:The clinical presentations, blood biochemistry, electroencephalogram (EEG), brain magnetic resonance imaging (MRI) and genetic test results of 10 children diagnosed at the Department of Pediatrics of Peking University First Hospital between January 2014 and June 2020 were analyzed.Results:All these 10 children were male, with seizures and severe developmental delay.Five out of eight cases showed hypotonia.Four out of nine cases had facial deformity or multiple organ abnormalities.The onset age of seizures ranged from one month and 28 days to 10 months, with an average age of 4.8 months.There were various types of seizures, and all patients showed focal seizures.The seizures of 6 patients in these 10 cases could be induced by fever disease.Diffuse slow waves mixed focal or multifocal discharges of interictal EEG in 9 cases with n PIGA-deficient.Brain MRI showed enlarged subarachnoid space in 44.4% (4/9 cases) of patients.Slight elevated serum alkaline phosphatase could be seen in 2 cases.Genetic analysis confirmed that a total of 8 different mutation sites were found, 7 of which were unreported.In this group, 4 cases were diagnosed with multiple congenital anomalies -hypotonia -seizures syndrome 2 (MCAHS2), 5 cases were diagnosed with developmental delay and epilepsy without deformity, and one case was not classified, respectively.n Conclusions:Focal seizure was common in these patients with n PIGA mutations, and often induced by fever disease.Interictal EEG was characterized by diffuse slow waves mixed focal or multifocal discharges.Enlarged subarachnoid space was the most common brain MRI abnormality in these patients.The phenotype of patients only partially conformed to typical MCAHS2 manifestations, and most of them had no deformity.n