Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Xueyang Niu"'
Publikováno v:
Acta Epileptologica, Vol 3, Iss 1, Pp 1-8 (2021)
Abstract Background RHOBTB2 gene is associated with developmental and epileptic encephalopathy-64(DEE-64), which is characterized by epilepsy, developmental delay, microcephaly, unspecific facial dysmorphism, and paroxysmal movement disorders. Most p
Externí odkaz:
https://doaj.org/article/cc4c882d20a44437b6ba9a021a125d57
Autor:
Ying Yang, Xueyang Niu, Miaomiao Cheng, Qi Zeng, Jie Deng, Xiaojuan Tian, Yi Wang, Jing Yu, Wenli Shi, Wenjuan Wu, Jiehui Ma, Yufen Li, Xiaoling Yang, Xiaoli Zhang, Tianming Jia, Zhixian Yang, Jianxiang Liao, Yan Sun, Hong Zheng, Suzhen Sun, Dan Sun, Yuwu Jiang, Yuehua Zhang
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
ObjectiveThis study aimed to obtain a comprehensive understanding of the genetic and phenotypic aspects of GABRG2-related epilepsy and its prognosis and to explore the potential prospects for personalized medicine.MethodsThrough a multicenter collabo
Externí odkaz:
https://doaj.org/article/a079fd2ba9bc4e238dee2d8fdcc04ef9
Autor:
Qi Zeng, Ying Yang, Jing Duan, Xueyang Niu, Yi Chen, Dan Wang, Jing Zhang, Jiaoyang Chen, Xiaoling Yang, Jinliang Li, Zhixian Yang, Yuwu Jiang, Jianxiang Liao, Yuehua Zhang
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
ObjectiveThe aim of this study was to analyze the phenotypic spectrum, treatment, and prognosis of 72 Chinese children with SCN2A variants.MethodsThe SCN2A variants were detected by next-generation sequencing. All patients were followed up at a pedia
Externí odkaz:
https://doaj.org/article/306760eb36474d2c973dce80ed5b6858
Autor:
Jing Zhang, Ying Yang, Xueyang Niu, Jiaoyang Chen, Wei Sun, Changhong Ding, Lifang Dai, Liping Zhang, Qi Zeng, Yi Chen, Xiaojuan Tian, Xiaoling Yang, Taoyun Ji, Zhixian Yang, Yanling Yang, Yuwu Jiang, Yuehua Zhang
Publikováno v:
Acta Epileptologica, Vol 2, Iss 1, Pp 1-15 (2020)
Abstract Background Progressive myoclonic epilepsy (PME) is a group of neurodegenerative diseases with genetic heterogeneity and phenotypic similarities, and many cases remain unknown of the genetic causes. This study is aim to summarize the clinical
Externí odkaz:
https://doaj.org/article/b90d478449784b048d0748c38568289a
Autor:
Xiaoling Yang, Xueyang Niu, Ying Yang, Miaomiao Cheng, Jing Zhang, Jiaoyang Chen, Zhixian Yang, Yuehua Zhang
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
This study aimed to analyze the genotypes and phenotypes of GNAO1 variants in a Chinese cohort. Seven male and four female patients with GNAO1 variants were enrolled, including siblings of brothers. Ten different GNAO1 variants (nine missense and one
Externí odkaz:
https://doaj.org/article/474b5c66f8264ecbb6cd2b3b1e30b33e
Autor:
Jiaoyang, Chen, Yi, Chen, Ying, Yang, Xueyang, Niu, Jing, Zhang, Qi, Zeng, Aijie, Liu, Xiaojing, Xu, Xiaoxu, Yang, Shupin, Li, Xiaoling, Yang, Yi, Wang, Yuehua, Zhang
Publikováno v:
Journal of Human Genetics. 68:73-80
To investigate the occurrence of mosaicism in epilepsy probands and their parents using amplicon-based deep sequencing (ADS).Patients were recruited from the outpatient of Peking University First Hospital. Two hundred and sixty-four probands with pat
Autor:
Qi Zeng, Xiaoling Yang, Jiehui Ma, Dan Sun, Jianxiang Liao, Xueyang Niu, Wenshu XiangWei, Ying Yang, Miaomiao Cheng, Yuwu Jiang, Wenhui Li, Pan Gong, Xiaoli Zhang, Shuizhen Zhou, Zhixian Yang, Yuehua Zhang
Publikováno v:
Journal of Neurology. 269:2649-2665
This study aimed to comprehensively examine the genetic and phenotypic aspects of GABRB3-related epilepsy and to explore the potential prospects of personalized medicine. Genetic testing was conducted in all epilepsy patients without acquired factors
Autor:
Wenwei Liu, Miaomiao Cheng, Ying Zhu, Yi Chen, Ying Yang, Hui Chen, Xueyang Niu, Xiaojuan Tian, Xiaoling Yang, Yuehua Zhang
Publikováno v:
Developmental medicine and child neurologyREFERENCES.
To explore the phenotypic spectrum and refine the genotype-phenotype correlation of DYNC1H1-related epilepsy.The clinical data of 15 patients with epilepsy in our cohort and 50 patients with epilepsy from 24 published studies with the DYNC1H1 variant
Autor:
Ying, Yang, Xueyang, Niu, Miaomiao, Cheng, Qi, Zeng, Jie, Deng, Xiaojuan, Tian, Yi, Wang, Jing, Yu, Wenli, Shi, Wenjuan, Wu, Jiehui, Ma, Yufen, Li, Xiaoling, Yang, Xiaoli, Zhang, Tianming, Jia, Zhixian, Yang, Jianxiang, Liao, Yan, Sun, Hong, Zheng, Suzhen, Sun, Dan, Sun, Yuwu, Jiang, Yuehua, Zhang
Publikováno v:
Frontiers in molecular neuroscience. 15
This study aimed to obtain a comprehensive understanding of the genetic and phenotypic aspects ofThrough a multicenter collaboration in China, we analyzed the genotype-phenotype correlation and antiseizure medication (ASM) of patients withIn 35 patie
Publikováno v:
Acta Epileptologica, Vol 3, Iss 1, Pp 1-8 (2021)
Background RHOBTB2 gene is associated with developmental and epileptic encephalopathy-64(DEE-64), which is characterized by epilepsy, developmental delay, microcephaly, unspecific facial dysmorphism, and paroxysmal movement disorders. Most previous s