关键词: 1p36缺失综合征, 癫痫, 婴儿痉挛症, 颅面部畸形, 预后

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