PCDH19/Protocadherin 19 基因概述 PCDH19 cDNA / gene is a gene with protein product which located on Xq22.1. The PCDH19 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog. 226 organisms have orthologs with human gene PCDH19. ...
PCDH19基因致病机制 PCDH19基因编码原钙黏蛋白19,参与细胞间的信号传导。1971年Juberg等[1]在一个大家系中发现仅限于女性的癫痫和智力障碍(epilepsy and mental retardation limited to females, EFMR)——15名女性(父源血亲),临床表现为癫痫伴智力低下,她...
该家族成员含有6个不同于经典钙粘蛋白的胞外钙粘蛋白结构域、跨膜结构域和胞质尾编码蛋白是一种钙黏蛋白相关的神经元受体,被认为在大脑中建立特定的细胞-细胞连接中起作用该基因在抑制癌细胞运动和细胞迁移中起作用。选择性剪接导致编码不同亚型的多个转录变体[由RefSeq提供,2015年1月]This gene belongs to the ...
·3751·http://.chinagp.netE-mail:zgqkyx@chinagp.net·病案研究·一例PCDH19基因新生突变男性嵌合体致癫痫临床特点分析并文献复习吴文娟1,胡进通1,唐洪侠1,张晓青1,李爱霞2,李宝广3,孙素真1*【摘要】 PCDH19基因突变主要引起限于女性的癫痫伴智力低下。因其特殊的遗传方式主要导致女性杂合子发病。目前PCDH...
MethodsThe clinical data of 60 female epilepsy patients with PCDH19 gene heterozygous variations at the Department of Pediatrics, Peking University First Hospital from October 2007 to December 2018 were collected and analyzed retrospectively, their clinical manifestations, accessory examination and follow-up...
Developmental and epileptic encephalopathy 9 (DEE9): The gene PCDH19 (Xq22.1), which encodes the calcium-dependent cell adhesion protein protocadherin-19 (PCDH19), is nowadays considered as one of the most important genes in monogenic epilepsy (Depienne and LeGuern, 2012). Mutations in PCDH19...
The broad clinical spectrum of epilepsies associated with protocadherin 19 gene mutation. Front Neurol, 2022, 12: 780053. 上一篇 家族性局灶性癫痫伴可变灶1型一例并文献复习 衡娅婷, 孙玉瑶, 杨欣伟 下一篇 NR2F1基因变异致婴儿癫痫性痉挛综合征一例 胡万冬, 高在芬, 李晓莺, 王亚萍, 刘勇, 史...
通过查找 Human Gene Mutation Database(HGMD Professional 2019.4)数据库对PCDH19的各基因型(错义突变,截断突变,剪接突变,大片段变异及其他类型)的突变情况进行统计分析.根据HGMD数据库收录的突变信息标注所有错义突变到PCDH19蛋白上以便研究其集中和离散的情况.5.通过PubMed数据库搜索PCDH19相关的外文文献进行回顾分析...
【关键词】 PCDH19基因癫痫丛集性发作护理 Comprehensive nursing intervention in 1 case of protocadherin 19（PCDH19）gene related epilepsy Xu Er-hui, Lin Zhen-xiu. Chengdu Women’s and Children’s Central Hospital, School of Medicine, University of Electronic Science and Technology of China, ...
青春期后患者癫痫发作频率降低，但其智力无明显改善。关键词：癫痫；原钙黏蛋白19；突变；基因测序 中图分类号：R725；R742.1文献标志码：A文章编号：1072-2333(2221)03-022-05D0I：19.7619/jcmp.22200657 Analysis of clinical characteristics of procadherin19 gene mutation associated epilepsy DUAN Yuanhul,...