QQ客服 官方微博 反馈留言

浏览/检索结果: 共7条，第1-7条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing 期刊论文 MOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 卷号: 6, 期号: 5, 页码: 739-748 作者:  Yang, Junli;  Wang, Qiong;  Zhuo, Qingcui;  Tian, Huiling;  Li, Wen 收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11 glycosylphosphatidylinositol  GPI  IGD  inherited GPI deficiency  MCAHS2  multiple congenital anomalies hypotonia-seizures syndrome 2  phosphatidylinositol glycan anchor biosynthesis class A  PIGA  PIGA  deficiency  splicing defect  WES  whole-exome sequencing   Predicting seizure by modeling synaptic plasticity based on EEG signals - a case study of inherited epilepsy 期刊论文 COMMUNICATIONS IN NONLINEAR SCIENCE AND NUMERICAL SIMULATION, 2018, 卷号: 56, 页码: 330-343 作者:  Zhang, Honghui;  Su, Jianzhong;  Wang, Qingyun;  Liu, Yueming;  Good, Levi 收藏  |  浏览/下载：8/0  |  提交时间：2019/12/30 Inherited seizures  Seizure prediction  EEG  Synaptic plasticity   SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures 期刊论文 BMC MEDICAL GENETICS, 2017 Wang, Jiaping; Gao, Hua; Bao, Xinhua; Zhang, Qingping; Li, Jiarui; Wei, Liping; Wu, Xiru; Chen, Yan; Yu, Shujie 收藏  |  浏览/下载：5/0  |  提交时间：2017/12/03 SCN8A  Epileptic encephalopathy  Family cases  DE-NOVO MUTATIONS  SODIUM-CHANNEL  PHENOTYPIC SPECTRUM  CLINICAL SPECTRUM  SCN2A MUTATIONS  RECURRENT  NA(V)1.6  CHILDREN   The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population 期刊论文 CLINICAL GENETICS, 2017 Liu, A.; Xu, X.; Yang, X.; Jiang, Y.; Yang, Z.; Liu, X.; Wu, Y.; Wu, X.; Wei, L.; Zhang, Y. 收藏  |  浏览/下载：8/0  |  提交时间：2017/12/04 clinical manifestation  Dravet syndrome  epilepsy  females  fever  PCDH19  PROTOCADHERIN 19 MUTATIONS  MENTAL-RETARDATION  LIMITED EPILEPSY  ONSET EPILEPSY  DE-NOVO  ENCEPHALOPATHY  INHERITANCE  FEVER   A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections 期刊论文 BMC MEDICAL GENETICS, 2012, 卷号: 13, 期号: Aug, 页码: -75 Xu, X; Xu, Q; Zhang, Y; Zhang, XD; Cheng, TL; Wu, BB; Ding, YH; Lu, P; Zheng, JJ; Zhang, M; Qiu, ZL; Yu, X 收藏  |  浏览/下载：25/0  |  提交时间：2013/06/04 SEVERE MENTAL-RETARDATION  CREATINE TRANSPORTER DEFICIENCY  CPG-BINDING PROTEIN-2  GENE COPY NUMBER  RETT-SYNDROME  MECP2 GENE  NEUROLOGICAL SYMPTOMS  RECURRENT INFECTIONS  XQ28  DISORDER   A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections 期刊论文 BMC MEDICAL GENETICS, 2012, 卷号: 13 作者:  Xu, Xiu;  Xu, Qiong;  Zhang, Ying;  Zhang, Xiaodi;  Cheng, Tianlin 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/19 MECP2  Autism  ASD  CNV  Chinese patients   Limbic Epileptogenesis in a Mouse Model of Fragile X Syndrome 期刊论文 CEREBRAL CORTEX, 2009, 卷号: 19, 期号: 7, 页码: 1504-1514 作者:  Xiong, Zhi-Qi 收藏  |  浏览/下载：18/0  |  提交时间：2012/07/13 epilepsy  FMRP  kindling  mGluR5  mossy fiber sprouting  NMDA  MENTAL-RETARDATION PROTEIN  METABOTROPIC GLUTAMATE-RECEPTOR  SELECTIVE RNA-BINDING  LONG-TERM DEPRESSION  KINDLING MODEL  MESSENGER-RNAS  ELECTRICAL STIMULATION  KNOCKOUT MICE  EEG FINDINGS  EPILEPSY