摘要
目的探究钙连接蛋白4(Ca2+-bingding protein 4,CaBP4)基因突变与小儿癫痫的相关性。方法选取2016年3月~2018年3月在陕西省友谊医院就诊的儿童癫痫60例,所有患儿均符合国际抗癫痫联盟以及中国癫痫的诊断标准。通过检测CaBP4基因突变分布情况,分析CaBP4基因突变与癫痫患儿首发病年龄、月发作频率、发作程度及发作类型间的相关性。结果 60例癫痫患儿中,CaBP4基因p.G155D突变阳性患者为33例(55.0%),CaBP4基因未突变患儿27例(45.0%)。CaBP4基因突变与小儿癫痫性别无关,差异无统计学意义(χ^2=0.156,…P>0.05)。CaBP4基因突变与小儿癫痫首发病年龄有关,CaBP4基因p.G155D突变患儿首发病年龄低于CaBP4基因未突变患儿,差异具有统计学意义(t=9.752, P<0.05)。CaBP4基因突变与小儿癫痫月发作频率和发作程度有关,其中CaBP4基因p.G155D突变患儿月发作频率高于CaBP4基因未突变患儿,差异有统计学意义(t=11.352, P<0.05)。重度发作CaBP4基因p.G155D突变患儿高于CaBP4基因未突变重度患儿,差异有统计学意义(χ^2=7.482,P<0.05)。CaBP4基因突变与小儿癫痫发作类型有关,CaBP4基因p.G155D突变患儿简单部分性发作率、复杂部分性发作率、强直-阵挛发作率显著高于CaBP4基因未突变患儿,差异均有统计学意义(χ^2=9.962, P<0.05)。CaBP4基因突变与癫痫患儿首发病年龄、月发作频率、发作程度、发作类型有关,差异有统计学意义(P<0.05)。结论 CaBP4基因p.G155D突变,癫痫患儿首发病年龄越早、月发作频率越高、发作程度越严重,癫痫发作类型不同,CaBP4基因p.G155D突变率存在差异。
Objective To explore the correlation between CaBP4 gene mutation and epilepsy in children. Methods 60 children with epilepsy admitted to Shaanxi Friendship Hospital from March 2016 to March 2018 were selected. All the children met the diagnostic criteria of the international anti-epilepsy union and China. By detecting the distribution of CaBP4 gene mutation, the correlation between CaBP4 gene mutation and age of first onset, monthly incidence, severity and type of seizure in children with epilepsy was analyzed. Results Among the 60 children with epilepsy, 33 patients(55.0%) had a positive mutation of CaBP4 gene p.G155 D, and 27 patients(45.0%) had no mutation of CaBP4 gene(χ^2=0.156,P>0.05). The mutation of CaBP4 gene was related to the age of onset of epilepsy in children. The age of onset of CaBP4 gene p.g155 D was lower in children with CaBP4 gene mutation than in children without CaBP4 gene mutation, and the difference was statistically significant(t=9.752, P<0.05). CaBP4 gene mutation was related to the frequency and severity of monthly seizures in children, among which, the frequency of monthly seizures in children with p.g155 D mutation of CaBP4 gene was higher than that in children without CaBP4 gene mutation, with statistically significant difference(t=11.352, P<0.05). Children with severe CaBP4 gene p.g155 D mutation were higher than those with severe CaBP4 gene mutation(χ^2=7.482, P<0.05). The mutation of CaBP4 gene was related to the type of epileptic seizure in children. The incidence of simple partial seizure, complex partial seizure and tonic-clonic seizure in children with p.g155 D mutation of CaBP4 gene was significantly higher than that in children with no mutation of CaBP4 gene(χ^2=9.962, P<0.05). The mutation of CaBP4 gene was related to the age of onset, monthly frequency, severity and type of seizure in children with epilepsy, and the difference was statistically significant(P<0.05).Conclusion CaBP4 gene p.G155 D mutation, the earlier the onset age, the higher the frequency of monthly seizures, the more severe the seizures, different types of seizures, CaBP4 gene p.G155 D mutation rate was different.
作者
张玲如
周美宁
肖珊
ZHANG Ling-ru;ZHOU Mei-ning;XIAO Shan(Department of Neurology,Shaanxi Friendship Hospital,Xi’an 710068,China;Department of Neurology,Xi’an Gaoxin Hospital,Xi’an 710075,China)
出处
《现代检验医学杂志》
CAS
2019年第6期28-31,共4页
Journal of Modern Laboratory Medicine
