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...
Dimova PS, Kirov A, Todorova A, Todorov T, Mitev V. A novel PCDH19 mutation inherited from an unaffected mother. Pediatr Neurol 2012;46:397-400.Dimova PS, Kirov A, Todorova A, Todorov T, Mitev V (2012) A novel PCDH19 mutation inherited from an unaffected mother. Pediatr Neurol 46(...
对发现的突变,依据PCDH19基因突变数据库(http://www.lovd.nl/PCDH19)和Exome Variant Server (http://evs.gs.washington.edu/EVS/)来确定是否新突变,用Polyphen2 (http://genetics.bwh.harvard.edu/pph2/dokuwiki/about),SIFT (http://sift.jcvi.org/)和Mutation Taster Server (http://www.mutationtaster...
Protocadherin 19 (PCDH19) mutations have been identified in epilepsy in females with mental retardation as well as patients with a "Dravet-like" phenotype. We aimed to elucidate the electroclinical phenotype associated with PCDH19 mutation, which is currently difficult to identify at onset leading ...
Mutations in PCDH19 gene, which encodes protocadherin-19 (PCDH19), cause Developmental and Epileptic Encephalopathy 9 (DEE9). Heterogeneous loss of PCDH19 expression in neurons is considered a key determinant of the disorder; however, how PCDH19 mosaic e
Two of the nine probands with inherited mutations had no family history of epilepsy, one inherited the mutation from her transmitting father and the other inherited from her asymptomatic mother. Our results confirmed that the clinical spectrum of PCDH19 mutations includes female DS patients, epilepsy...
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...
PCDH19基因突变导致的女性Dravet综合征的基因型和表型特点要点 万方数据
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,她们的父亲均表型正常...
Key words：edilepsy;pnWcaddPn19;mutation；sepuepcina 原钙黏蛋白19(PCDH19)基因是早发性癫痫脑病9型(EIEE9,MIM320088)的主要致病基因。1974年首次报道该疾病家系的发病特点为限于女性⑴02208年首次报道该癫痫疾病为PCDH19基因突变所致，限于女性并伴智力低下［2］o但刘爱杰等［3］研究表明，有PCDH19基因突变...