PCDH19 mutation in Japanese females with epilepsy[J]. Epilepsy Res, 2012,99(1-2):28-37. DOI: 10.1016/j.eplepsyres.2011.10.014 . 返回引文位置Google Scholar 百度学术 万方数据 [9] Trivisano M , Specchio N , Vigevano F . Extending the use of stiripentol to other epileptic syndromes:a ...
微信干预是指以微信公众号形式为出院患者提供功能锻炼视频及康复的相关知识，以微信群互动形式为患者提供康复咨询并相互交流，以达到提高患者居家功能锻炼依从性的干预方式1叫 6居家护理平台 骨科居家护理平台分为护士、患者两个端口，患者可进行提问、预约等，护士为患者解疑答惑并推送视频图片供患者参考学习，出院后通过...
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 the X-linked genePCDH19(Xq22.1) cause a severe neurodevelopmental disorder known as Developmental and Epileptic Encephalopathy 9 (DEE9, OMIM # 300088) [1]. DEE9 is characterized by early-onset epilepsy and very heterogeneous spectrum of neuropsychiatric symptoms, including intellectual di...
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...
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...
PCDH19 mutation confirmed by a genetic laboratory Suffer 12 or more seizures in the 12 weeks prior to screening Failure of 2 or more anti-seizure medications to control seizures Have not experienced >8 continuous weeks of seizure freedom during the 12 weeks prior to screening ...
Prolonged peri-ictal clinical-EEG alterations in patients with PCDH19 mutation 来自 ResearchGate 喜欢 0 阅读量: 40 作者:D Terney,B Jepsen,H Hjalgrim,P Stendevad,E Gardella 摘要: Epilepsy with myoclonic absences (EMA) is a rare form of generalized epilepsy occurring in childhood and is often...
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...
which is part of a family of molecules supporting the communication between cells in the central nervous system. In case of mutation, protocadherin 19 may be malformed, reduced in its functions or not produced at all. The abnormal expression of protocadherin 19 is associated with occurrence of se...