PCDH19介绍 PCDH19早期婴儿性癫痫脑病9型遗传方式：XL 首例报道 1971年 在一个家族中，15个姐妹关系或近亲关系的女性患有惊厥性疾病，她们的父亲表型均正常。她们的父辈共11名兄弟姐妹，共9名男性，她们是其中6名男性的女儿。父辈这9兄弟共生育31个孩子，在现存的29名后代中，10名正常男性，4名正常女性，7名女性...
EpilepsyGeneticsAutismProtocadherin 19 (PCDH19)-related epilepsy (OMIM 300088) is a distinctive clinical syndrome limited to females. We describe a 17-year-old girl who presented to a regional epilepsy clinic with a history of recurrent febrile seizures in infancy. Genetic analysis of the PCDH19 ...
测序结果与人类基因PCDH19序列进行比较(Genbank序列号NM_001184880.1)。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://si...
1 Dibbens, L. M. et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.Nature genetics40, 776-781, doi:10.1038/ng.149 (2008). 2 Depienne, C. et al. Sporadic infantile ...
- 《Bmc Medical Genetics》 被引量: 1发表: 2018年 PCDH19基因变异导致女性癫痫患儿的临床特点 目的 分析PCDH19基因变异导致女性癫痫患儿的临床特点.方法 回顾性总结分析2007年10月至2018年12月在北京大学第一医院儿科收集的PCDH19基因变异阳性的60例女性癫痫患儿... 陈奕,吴希如,张月华,... - 《中华儿科杂志...
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
Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund, Denmark Rikke S. Møller Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark Rikke S. Møller Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù...
Yang, ZhixianLiu, XiaoyanWu, YeWu, XiruWei, LipingZhang, YuehuaClin GenetClinical GeneticsLiu A, Xu X, Yang X, Jiang Y, Yang Z, Liu X, Wu Y, Wu X, Wei L, Zhang Y. The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. Clin Genet 2017;...
GeneticsAutismspectrumdisorderEpilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have no ...
In sum, these data indicate a role for PCDH19 in GABAergic transmission as well as migration and morphological maturation of neurons.SilviaBassaniAndrzej WCwetschLauraGerosaGiulia MSerrattoAlessandraFolciIgnacio FHallMicheleMazzantiLauraCanceddaMariaPassafaroHuman Molecular Genetics...