Guan J, Du K X, Dong Y, Li L, Song P P, Gong H, Zhang X L, Jia T M
Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450002, China.
Zhonghua Er Ke Za Zhi. 2022 Jan 2;60(1):51-55. doi: 10.3760/cma.j.cn112140-20210610-00491.
To explore the clinical manifestations and genetic characteristics of patients with epilepsy and episodic ataxia caused by SCN2A gene variation. The clinical data of seizure manifestation, imaging examination and genetic results of 5 patients with epilepsy and (or) episodic ataxia because of SCN2A gene variation admitted to the Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University from July 2017 to January 2021 were analyzed retrospectively. Among 5 patients, 4 were female and 1 was male. The onset age of epilepsy ranged from 4 days to 8 months. There were 2 cases of benign neonatal or infantile epilepsy and 3 cases of epileptic encephalopathy, in whom 1 case had development retardation,1 case transformed from West syndrome to infantile spasm and another one transformed from infantile spasm to Lennox-Gastaut syndrome. One case of benign neonatal-infantile epilepsy was characterized by neonatal onset seizures and episodic ataxia developed at the age of 78 months. Electroencephalograms at first visit of 5 cases showed that 2 cases were normal, 1 case had focal epileptic discharge, and 2 cases had multi-focal abnormal discharge with peak arrhythmia. The brain magnetic resonance imaging (MRI) of 3 cases were nomal, 1 case was abnormal (brain atrophy with decreased white matter) and the results of 1 case was unknown. The follow-up time ranged from 17 months to 89 months. Four cases of epilepsy were controlled and 1 case died at 2 years of age. Two cases had normal intelligence and motor development, 2 had moderate to severe intelligence retardation and motor critical state, and 1 had moderate to severe intelligence and motor development retardation. SCN2A gene variations were identified in all cases. There were 4 missense variations and 1 frameshift variation. Three variations had not been reported so far, including c.4906A>G,c.3643G>T,c.638delT. Variations in SCN2A gene can cause benign neonatal or infantile epilepsy and epileptic encephalopathy. Some children develop episodic ataxia with growing age. The variation of SCN2A gene is mainly missense variation.
探讨由SCN2A基因变异所致癫痫及发作性共济失调患者的临床表现及遗传学特征。回顾性分析2017年7月至2021年1月郑州大学第三附属医院儿科收治的5例因SCN2A基因变异导致癫痫和（或）发作性共济失调患者的癫痫发作表现、影像学检查及遗传学结果等临床资料。5例患者中，女4例，男1例。癫痫起病年龄为4天至8个月。其中2例为良性新生儿或婴儿癫痫，3例为癫痫性脑病，其中1例有发育迟缓，1例从West综合征转变为婴儿痉挛症，另1例从婴儿痉挛症转变为Lennox-Gastaut综合征。1例良性新生儿-婴儿癫痫以新生儿期起病的癫痫发作及78个月时出现发作性共济失调为特点。5例初诊脑电图结果显示，2例正常，1例有局灶性癫痫放电，2例有多灶性异常放电伴高峰节律紊乱。3例脑部磁共振成像（MRI）正常，1例异常（脑萎缩伴白质减少），1例结果未知。随访时间为17个月至89个月。4例癫痫得到控制，1例2岁时死亡。2例智力及运动发育正常，2例有中度至重度智力发育迟缓及运动临界状态，1例有中度至重度智力及运动发育迟缓。所有病例均检测到SCN2A基因变异。其中有4个错义变异和1个移码变异。3个变异目前尚未见报道，包括c.4906A>G、c.3643G>T、c.638delT。SCN2A基因变异可导致良性新生儿或婴儿癫痫及癫痫性脑病。部分患儿随年龄增长出现发作性共济失调。SCN2A基因变异主要为错义变异。
