[1]张玲如,周美宁,肖　珊.CaBP4基因突变与儿童癫痫的相关性研究[J].现代检验医学杂志,2019,34(06):28-31.[doi:10.3969 ／ j.issn.1671-7414.2019.06.007]
　ZHANG Ling-ru,ZHOU Mei-ning,XIAO Shan.Study the Relationship between CaBP4 Gene Mutation and Epilepsy in Children[J].Journal of Modern Laboratory Medicine,2019,34(06):28-31.[doi:10.3969 ／ j.issn.1671-7414.2019.06.007]
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CaBP4基因突变与儿童癫痫的相关性研究()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第34卷
期数:
2019年06期
页码:
28-31
栏目:
论著
出版日期:
2019-12-30

文章信息/Info

Title:
Study the Relationship between CaBP4 Gene Mutation and Epilepsy in Children
文章编号:
1671-7414（2019）06-028-04
作者:
张玲如1; 周美宁1; 肖　珊2
（1. 陕西省友谊医院神经内科，西安　710068；2. 西安高新医院神经内科，西安　710075）
Author(s):
ZHANG Ling-ru1;  ZHOU Mei-ning1;  XIAO Shan2
（1. Department of Neurology, Shaanxi Friendship Hospital, Xi’an 710068, China；2.Department of Neurology, Xi’an Gaoxin Hospital, Xi’an 710075, China）
关键词:
钙连接蛋白4; 基因突变; 癫痫; 发作频率
分类号:
R754；R748
DOI:
10.3969 ／ j.issn.1671-7414.2019.06.007
文献标志码:
A
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（χ2=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（χ2=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（χ2=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。
Abstract:
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.G155D, and 27 patients (45.0%) had no mutation of CaBP4 gene（χ2=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.g155D 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.g155D 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.g155D mutation were higher than those with severe CaBP4 gene mutation (χ2=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.g155D mutation of CaBP4 gene was significantly higher than that in children with no mutation of CaBP4 gene (χ2=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.G155D 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.G155D mutation rate was different.

参考文献/References:

[1]　李承玉, 徐连萍, 杨华俊, 等. 中国汉族常染色体显 性遗传颞叶外侧癫痫家系的临床特征和基因突变筛 查[J]. 中国神经精神疾病杂志,2018,44(9):513-519. LI Chengyu, XU Lianping, YANG Huajun, et al. Clinical characteristics and causative gene screening in Chinese families with autosomal dominant lateral temporal lobe epilepsy [J]. Chinese Journal of Neurous and Mental Diseases,2018,44(9):513-519.
[2]　STALEY K. Molecular mechanisms of epilepsy[J]. Nat Neurosci, 2015, 18(3):367-372.
[3]　李 霞, 刘小红, 杨 乐. 不同年龄阶段癫痫患儿奥卡 西平活性代谢产物血药浓度的临床价值[J]. 现代检 验医学杂志,2015,30(1):143-144,148. LI Xia,LIU Xiaohong,YANG Le.Clinical values of blood serum concentration of MHD in children with epilepsy of different ages[J].Journal of Modern Laboratory Medicine,2015,30(1):143-144,148.
[4]　钱萍, 杨小玲, 许小菁, 等. 癫痫失语疾病谱 GRIN2A 基因突变研究[J]. 中华医学遗传学杂 志,2018,35(3):314-318. QIAN Ping, YANG Xiaoling, XU Xiaojing, et al. Study of GRIN2A mutations in epilepsy-aphasia spectrum disorders[J]. Chinese Journal of Medical Genetics,2018,35(3):314-318.
[5]　冷明月, 李梅. 额叶癫痫相关基因的研究进展[J]. 国 际儿科学杂志,2018,45(12):929-932. Leng Mingyue, LI Mei. The genes research progress in frontal lobe epilepsy [J]. International Journal of Pediatrics, 2018,45(12):929-932.
[6]　HERON S E, SMITH K R, BAHLO M, et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy[J]. Nat Genet, 2012;44(11):1188-1190.
[7]　NICHOLS W A, HENDERSON B J, Marotta C B, et al. Mutation linked to autosomal dominant nocturnal frontal lobe epilepsy reduces low-sensitivity α4β2, and Increases α5α4β2, nicotinic receptor surface expression[J]. PLoS One, 2016, 11(6):e0158032.
[8]　ZEITZ C, KLOECKENER-GRUISSEM B, FORSTER U, et al. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness[J]. Am J Hum Genet, 2006, 79(4):657-667.
[9]　KHAN A O, ALRASHED M, ALKURAYA F S. Clinical characterisation of the CABP4-related retinal phenotype[J]. Br J Ophthalmol, 2013, 97(3):262-265.
[10] 吴逊, 李文慧. 国际抗癫痫联盟和名词委员会推荐 的癫痫发作的临床及脑电图分类[J]. 中华神经科杂 志,2001, 34(3):187-189. WU Xun, LI Wenhui. Clinical and electroencephalogram classification of epileptic seizures recommended by the international anti-epileptic union and the noun committee [J]. Chin J Neurology, 2001,34(3):187-189.
[11] 李秭瑶, 刘 悦, 王冬至, 等. 癫痫患儿丙戊酸治疗后 血液氨基酸谱水平变化及临床意义[J]. 现代检验医 学杂志,2017,32(5):24-27,31. LI Ziyao,LIU Yue,WANG Dongzhi,et al.Clinical significance of the changes of amino acid in children with epilepsy on valproate monotherapy[J]. Journal of Modern Laboratory Medicine,2017,32(5):24-27,31.
[12] DAN Handong, SONG Xiusheng, LI Jiazhang, et al. Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness[J]. Ophthalmic Genet, 2017,38(3):206-210.
[13] WEI Feng, YAN Limin, SU Tao, et al. Ion channel genes and epilepsy: functional alteration, Pathogenic Potential, and mechanism of epilepsy[J]. Neurosci Bull, 2017, 33(4):455-477.
[14] CHEN Zhihong, WANG Chun, ZHUO Muqing, et al. Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca(2+)-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy[J]. Oncotarget, 2017, 8(45):78940-78947.
[15] SCHATZ P, ABDALLA ELSAYED M E A, KHAN A O. Multimodal imaging in CABP4-related retinopathy[J]. Ophthalmic. 2017, 38(5):459-464.
[16] LITTINK K W, VAN GENDEREN M M, COLLIN R W, et al. A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder[J]. Invest Ophthalmol Vis Sci, 2009, 50(5):2344-2350.
[17] 李丹, 黄绍平, 宋婷婷, 等.SCN1A 基因突变阳性的 Dravet 综合征患儿的临床特征分析[J]. 西安交通大 学学报（医学版）,2016,37(6):841-845. LI Dan, HUANG Shaoping, SONG Tingting, et al. Clinical features of dravet syndrome patients with SCN1A gene mutations [J]. Journal of Xi’an Jiaotong University (Medical Sciences),2016,37(6):841-845.
[18] 曾琦, 张月华, 杨小玲, 等. 良性家族性新生 儿癫痫致病基因研究[J]. 中华实用儿科临床杂 志,2018,33(8):602-606. ZENG Qi, ZHANG Yuehua, YANG Xiaoling, et al. Study on gene mutation in benign familial neonatal epilepsy neonates [J]. Chinese Journal of pediatrics,2018,33(8):602-606.
[19] 赵滢, 章清萍, 张晓英， 等. 早发性癫痫脑病男 性患儿 ARX 基因突变及其临床特点[J]. 山东医 药,2014,54(23):13-15,19. ZHAO Ying, ZHANG Qingping, ZHANG Xiaoying, et al. ARX gene mutation and clinical characteristics in male patients with early-onset epileptic encephalopathy [J]. Shandong Medicine,2014,(23):13-15,19.

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备注/Memo

备注/Memo:
作者简介：张玲如(1978-)，女，硕士研究生，主治医师，研究方向: 脑血管病、运动障碍性疾病、神经变性疾病，E-mail：Zhanglr123@163.com。 通讯作者：周美宁(1977-)，女，副主任医师，研究方向: 脑血管病、运动障碍性疾病、神经变性疾病。收稿日期：2019-10-19
更新日期/Last Update: 2019-12-25