【摘要】 目的探讨热性惊厥的临床特点及其与电压门控性钠离子通道α1亚单位基因(SCN1A)的关联。方法收集34例热性惊厥患儿的临床资料及外周血并提取其DNA,采用多重连接依赖式探针扩增技术对热性惊厥患儿的SCN1A基因进行检测。结果 34例热性惊厥患儿中单纯性热性惊厥29例,复杂性热性惊厥5例,所有患儿均进行SCN1A基因检测,均未发现SCN1A基因外显子缺失或重复。结论 SCN1A基因外显子的缺失或重复可能不是热性惊厥的潜在病因。更多还原

【Abstract】 Objective To study clinical features of febrile seizure and the correlation between the voltage-gated sodium channel α 1 subunit(SCN1A) gene and febrile seizure.Methods A study was conducted among 34 infants with febrile seizure.Clinical data including onset age,seizure type,EEG and prognosis were analyzed.Multiplex ligation-dependent probe amplification(MLPA) technique was applied to detect exon deletions or duplications of the SCN1A gene in 34 infants with febrile seizure.Results Among the 34 infants,there were 29 cases of simple febrile seizure,and 5 cases of complex febrile seizure.No exon deletion or duplication of the SCN1A gene was detected in any of the 34 infants.Conclusion Deletions or duplications in the SCN1A gene might not be a susceptible factor for febrile seizure.更多还原