Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Cui-xia Fan"'
Autor:
Yang Tian, Qiong-Xiang Zhai, Xiao-Jing Li, Zhen Shi, Chuan-Fang Cheng, Cui-Xia Fan, Bin Tang, Ying Zhang, Yun-Yan He, Wen-Bin Li, Sheng Luo, Chi Hou, Wen-Xiong Chen, Wei-Ping Liao, Jie Wang
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 17 (2024)
Externí odkaz:
https://doaj.org/article/a2847d81b9cc4118b9152c7100cc4f31
Autor:
Yang Tian, Qiong-Xiang Zhai, Xiao-Jing Li, Zhen Shi, Chuan-Fang Cheng, Cui-Xia Fan, Bin Tang, Ying Zhang, Yun-Yan He, Wen-Bin Li, Sheng Luo, Chi Hou, Wen-Xiong Chen, Wei-Ping Liao, Jie Wang
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
PurposeTo identify novel genetic causes of febrile seizures (FS) and epilepsy with febrile seizures plus (EFS+).MethodsWe performed whole-exome sequencing in a cohort of 32 families, in which at least two individuals were affected by FS or EFS+. The
Externí odkaz:
https://doaj.org/article/11a1b44fa0a344beb0a81664897b1c58
Autor:
Wen-Bin Li, Nan-Xiang Shen, Chao Zhang, Huan-Cheng Xie, Zong-Yan Li, Li Cao, Li-Zhi Chen, Yuan-jin Zeng, Cui-Xia Fan, Qian Chen, Yi-Wu Shi, Xing-Wang Song
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene and displays an inherited autosomal recessive pattern. In this study, we identified eight P
Externí odkaz:
https://doaj.org/article/4b3c1263d5d345f4a8900d051b8c1342
Autor:
Jing-Yang Wang, Bin Tang, Wen-Xiang Sheng, Li-Dong Hua, Yang Zeng, Cui-Xia Fan, Wei-Yi Deng, Mei-Mei Gao, Wei-Wen Zhu, Na He, Tao Su
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
ObjectiveNaturally occurring in-frame deletion is a unique type of genetic variations, causing the loss of one or more amino acids of proteins. A number of in-frame deletion variants in an epilepsy-associated gene SCN1A, encoding voltage gated sodium
Externí odkaz:
https://doaj.org/article/a0dc7d9e2bc54ba2b2bd14577d48dbd0
Autor:
Fu-Li Min, Bi-Jun Mao, Zhong-Zheng Zheng, Na He, Cui-Xia Fan, Rui-Yan Cai, Juan Wang, Yang-Mei Ou, Bing Qin, Wei-Ping Liao, Yong-Hong Yi, Ze Li, Yi-Wu Shi
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Antiepileptic drugs frequently cause cutaneous adverse reactions (cADRs). Numerous studies have reported associations between human leukocyte antigen (HLA) alleles and cADRs caused by single antiepileptic drug in Southern Han Chinese people. However,
Externí odkaz:
https://doaj.org/article/b5e8a9681dec4328acc46e765243a016
Autor:
Yang Tian, Qiong-Xiang Zhai, Xiao-Jing Li, Zhen Shi, Chuan-Fang Cheng, Cui-Xia Fan, Bin Tang, Ying Zhang, Yun-Yan He, Wen-Bin Li, Sheng Luo, Chi Hou, Wen-Xiong Chen, Wei-Ping Liao, Jie Wang
Publikováno v:
Frontiers in Molecular Neuroscience; 2024, p1-9, 9p
Autor:
Wen-Bin, Li, Nan-Xiang, Shen, Chao, Zhang, Huan-Cheng, Xie, Zong-Yan, Li, Li, Cao, Li-Zhi, Chen, Yuan-Jin, Zeng, Cui-Xia, Fan, Qian, Chen, Yi-Wu, Shi, Xing-Wang, Song
Publikováno v:
Frontiers in aging neuroscience. 14
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (
Autor:
Bin Li, Wen-jun Bian, Peng Zhou, Jie Wang, Cui-xia Fan, Hai-qing Xu, Lu Yu, Na He, Yi-wu Shi, Tao Su, Yong-hong Yi, Wei-Ping Liao
Publikováno v:
SSRN Electronic Journal.
Autor:
Jing-Yang, Wang, Bin, Tang, Wen-Xiang, Sheng, Li-Dong, Hua, Yang, Zeng, Cui-Xia, Fan, Wei-Yi, Deng, Mei-Mei, Gao, Wei-Wen, Zhu, Na, He, Tao, Su
Publikováno v:
Frontiers in molecular neuroscience. 15
Naturally occurring in-frame deletion is a unique type of genetic variations, causing the loss of one or more amino acids of proteins. A number of in-frame deletion variants in an epilepsy-associated geneWe summarized the basic information of forty-f
Autor:
Wen-Jun Bian, Wei-Ping Liao, Peng Zhou, Chuan-Xing Shao, Cui-Xia Fan, Qu-Wen Gao, Jie Wang, Bin Li, Na He, Yi-Wu Shi, Li-Dong Hua, Wei-Yi Deng
Publikováno v:
Molecular Neurobiology. 54:2428-2434
The SCN1A gene with 1274 point mutations in the coding regions or genomic rearrangements is the most clinically relevant epilepsy gene. Recent studies have demonstrated that variations in the noncoding regions are potentially associated with epilepsi