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目的 探讨KCNQ2基因突变相关新生儿-婴儿期癫痫的临床特点.方法 回顾性分析4例于2018年3-10月就诊于徐州医科大学附属医院儿科,经KCNQ2基因检测确定存在突变的新生儿-婴儿期癫痫患者,收集其临床资料.结果 4例患儿均为足月儿,起病时间分别为生后6、2、2d以及7个月12d,其发作类型及脑电图表现多样化,均为KCNQ2基因杂合突变,突变位点分别为c.2315delC/(p.Pro772Argfs)、c.1678C＞T/(p.Arg560Trp)、c.1696G＞T/(p.Asp566Tyr)、c.241C＞T/(p.Leu81Phe).4例患儿的临床诊断分别为良性家族性新生儿癫痫、婴儿癫痫伴游走性局灶性发作、婴儿痉挛症、良性家族性婴儿癫痫.予抗癫痫药物治疗后4例均发作缓解,2例患儿运动及智力发育正常,2例明显发育迟缓.结论 KCNQ2基因突变相关癫痫的发病年龄、突变位点及临床表型多样,基因检测可协助诊断,并为治疗提供参考.

Objective To explore the clinical characteristics of KCNQ2 gene mutation-related neonatal-infantile epilepsy.Methods A retrospective analysis of four cases of neonatal-infantile epilepsy with mutation identified by KCNQ2 gene detection was conducted in the Department of Pediatrics,Affiliated Hospital of Xuzhou Medical University from March to October 2018.The clinical data were collected.Results All the four cases were full-term infants.The onset time was six days,two days,two days and seven months and 12 days after birth,respectively.The types of seizures and electroencephalogram manifestations of these cases were diverse,and the KCNQ2 gene mutation sites were c.2315delC/p.Pro772Args,c.16789C＞T/p.Arg560Trp,c.1696G＞T/p.Asp566Tyr,c.241C＞T/p.Leu81Phe,respectively.The clinical diagnosis was benign familial neonatal epilepsy,infantile epilepsy with migratory focal seizures,infantile spasm and benign familial infantile epilepsy,which were alleviated after antiepileptic drug treatment.The motor and intellectual development of two cases was normal,and two cases showed obvious developmental delay.Conclusions The onset time,mutation site and clinical phenotype of KCNQ2 gene mutation-related epilepsy are various.Gene detection can assist in diagnosis and provide reference for treatment.