Abstract: Objective　To summarize the genetics and clinical phenotype characteristics of epilepsy in children with 1p36 deletion syndrome. Methods　All epileptic patients with1p36 deletion syndrome were retrospectively collected at the Pediatric Department of Peking University First Hospital from March 2017 to November 2021，and the features of clinical manifestations，electroencephalogram，and neuroimaging were analyzed. Results　Thirteen patients with epilepsy associated with 1p36 deletion syndrome were included.All 13 patients had de novo copy number variation（CNV）with a deletion size between 1.38 and 8.1 Mb. The main genes in the region were MMP23B，GABRD，SKI and PRDM16. The age at seizure onset ranged from 17 days to 9 months，and the median age was 2.5 months. Multiple seizure types were observed，included epileptic spasm in 11 patients，focal seizures in 6 patients，tonic seizures in 2 patients and myoclonic seizures in 1 patient. Developmental delay was presented in all 13 patients.All 13 patients had craniofacial anomaly，including a flat nasal bridge，straight eyebrows，deeply set eyes，low-set ears，bigger eye distance and protruding ears. Eight patients had abnormalities in other systems，including congenital heart defects in 5 cases，hearing abnormalities in 4 cases，hemangioma in 3 cases，renal calculi in 1 case，congenital cataract in 1 case，micropenis in 1 case and a single transverse palmar crease on both hands in 1 case. Brain magnetic resonance imaging（MRI）showed enlargement of subarachnoid spaces in the frontal and temporal region in 3 patients，deep sulcus in 2 patients，enlargement of bilateral lateral ventricle in 5 patients，white matter hypoplasia in 4 patients and agenesis of corpus callosum in 2 patient.In 13 patients，nine patients were diagnosed with infantile spasms. The age at last follow-up ranged from 13 months to 8 years 5 months：two patients were seizure-free for 19 months to 2 years，one patient died of unknown cause，and 10 patients still had seizures. Conclusion　The main pathogenic genes in the deletion region of 1p36 deletion syndrome with epilepsy include MMP23B，GABRD，SKI and PRDM16. The seizure onset age of 1p36 deletion syndrome related epilepsy is in infancy. The main seizure types include epileptic spasm and focal seizure，and most patients fit the diagnosis of infantile spasms. Seizures are difficult to control in most patients. All patients have developmental delay and craniofacial anomaly，and some patients have abnormalities in other systems.

Key words: 1p36 deletion syndrome, epilepsy, infantile spasms, craniofacial anomaly, prognosis

摘要： 目的　总结1p36缺失综合征相关癫痫患儿遗传学与临床表型特点。方法　回顾性研究2017年3月至2021年11月在北京大学第一医院儿科收集的癫痫患儿，对1p36缺失综合征患儿临床表现、脑电图、头颅影像学及遗传学特点进行总结。结果　共收集13例1p36缺失综合征相关癫痫患儿，缺失片段大小为1.38～8.1Mb，缺失区域内包括的主要致病基因为MMP23B、GABRD、SKI和PRDM16，13例患儿均为新生拷贝数变异。癫痫起病年龄为生后17 d至9月龄，中位起病年龄为2.5月龄。13例患儿癫痫发作类型多样，其中痉挛发作11例、局灶性发作6例、强直发作2例、肌阵挛发作1例。13例患儿均有颅面部异常和发育落后，表现为鼻梁扁平、直眉、眼窝深、耳位低、眼距偏宽和招风耳。8例有其他系统异常表现，其中先天性心脏病5例，听力异常4例，血管瘤3例，双肾结石、先天性白内障、阴茎短小和通贯掌各1例。13例头颅磁共振检查，额颞区蛛网膜下腔增宽3例、脑沟深2例、双侧侧脑室扩大5例、脑白质发育延迟4例、胼胝体发育不良2例。13例患儿中，有9例符合婴儿痉挛症诊断。末次随访年龄为1岁1月龄至8岁5月龄，其中2例癫痫发作已缓解1年7月至2年，1例不明原因死亡，余10例仍有癫痫发作。结论　1p36缺失综合征相关癫痫患儿缺失区域内的主要致病基因包括MMP23B、GABRD、SKI和PRDM16，患儿癫痫多在婴儿早期起病，发作类型以痉挛发作和局灶性发作多见，癫痫综合征表型主要为婴儿痉挛症，多数患儿癫痫发作难以控制，所有患儿均有智力运动发育落后及颅面部畸形，部分患儿可出现其他系统异常。

关键词: 1p36缺失综合征, 癫痫, 婴儿痉挛症, 颅面部畸形, 预后