KCNQ2突变导致的新生儿期早发癫痫性脑病临床分析

Clinical analysis of neonatal-onset epileptic encephalopathy caused by KCNQ2 mutation

目的探讨KCNQ2基因突变导致的新生儿期癫痫性脑病的临床特点。方法回顾分析9例新生儿期起病的KCNQ2癫痫性脑病患儿的临床资料。结果 9例患儿中男5例、女4例,起病中位年龄2天(0.5小时~8天),确诊时中位年龄10个月(1个月~5岁)。患儿以强直或不对称强直发作常见;脑电图以爆发抑制模式多见;均为KCNQ2新生杂合突变。诊断为大田原综合征5例,非综合征的癫痫性脑病4例。予多种药物治疗后,6例患儿癫痫发作缓解。患儿均有明显的运动及智力发育落后。结论 KCNQ2突变导致的癫痫性脑病主要在出生后1周以内起病,预后不良,基因检测可明确诊断。

Objective To explore the clinical characteristics of neonatal-onset epileptic encephalopathy caused by KCNQ2 gene mutation.Method The clinical data of 9 cases of neonatal-onset epileptic encephalopathy caused by KCNQ2 mutation were retrospective analyzed.Results In 9 children(5 boys and 4 girls),median onset age was 2 days(0.5 hours to 8 days)and the median age was 10 months(1 month to 5 years)at the time of diagnosis.A total of nine heterozygous de novo KCNQ2 missense mutations were identified.They had common features such as tonic seizures or asymmetrical tonic seizures and a suppression-burst EEG pattern.Five cases were diagnosed of Ohtahara syndrome and four cases were diagnosed of unknown syndrome epileptic encephalopathy.After treatment with multiple drugs,6 cases were seizure free.All of them had obvious motor and mental retardation.Conclusion Epileptic encephalopathy caused by KCNQ2 mutation mainly occurs within one week after birth,and the prognosis is poor.Gene detection can confirm the diagnose.