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CORC

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Prospective study of the efficacy of a ketogenic diet in 20 patients with Dravet syndrome 期刊论文
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2018, 卷号: 60
作者:  Ni, Yan;  Wang, Xin-Hua;  Zhang, Lin-Mei;  Chai, Yi-Ming;  Li, Wen-Hui
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05
Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome 期刊论文
2018, 卷号: 10
作者:  He, Na[1,2,3,4];  Li, Bing-Mei[1,2,3,4];  Li, Zhao-Xia[1,2,3,4];  Wang, Jie[1,2,3,4];  Liu, Xiao-Rong[1,2,3,4]
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/10
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations 期刊论文
HUMAN MUTATION, 2017
Dou, Yanmei; Yang, Xiaoxu; Li, Ziyi; Wang, Sheng; Zhang, Zheng; Ye, Adam Yongxin; Yan, Linlin; Yang, Changhong; Wu, Qixi; Li, Jiarui; Zhao, Boxun; Huang, August Yue; Wei, Liping
收藏  |  浏览/下载：121/0  |  提交时间：2017/12/03
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 features of Dravet syndrome patients with SCN1A gene mutations 期刊论文
Journal of Xi'an Jiaotong University (Medical Sciences), 2016, 卷号: 37, 页码: 841-845
作者:  Li, Dan;  Huang, Shao-Ping;  Song, Ting-Ting;  Yang, Lin;  Yang, Chang-Hong
收藏  |  浏览/下载：8/0  |  提交时间：2019/11/26
Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes 期刊论文
2016, 卷号: 38, 期号: 1, 页码: 40-46
作者:  Shi, Xiu-Yu;  Tomonoh, Yuko;  Wang, Wen-Ze;  Ishii, Atsushi;  Higurashi, Norimichi
收藏  |  浏览/下载：6/0  |  提交时间：2020/01/04
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome 期刊论文
HUMAN MUTATION, 2015
Xu, Xiaojing; Yang, Xiaoxu; Wu, Qixi; Liu, Aijie; Yang, Xiaoling; Ye, Adam Yongxin; Huang, August Yue; Li, Jiarui; Wang, Meng; Yu, Zhe; Wang, Sheng; Zhang, Zhichao; Wu, Xiru; Wei, Liping; Zhang, Yuehua
收藏  |  浏览/下载：5/0  |  提交时间：2017/12/03
APPROXIMATELY 10% OF "DE NOVO" SCN1AMUTATIONS CAUSING DRAVET SYNDROME ARE INHERITED FROM UNDETECTED PARENTAL MOSAICISM 期刊论文
EPILEPSIA, 2015
Zhang, Y-H.; Xu, X.; Yang, X.; Wu, Q.; Wu, X.; Wei, L.
收藏  |  浏览/下载：4/0  |  提交时间：2017/12/03
家族性Dravet综合征临床表型和SCN1A基因突变研究 其他
2015-01-01
田小娟; 张月华; 杨小玲; 许小菁; 刘爱杰; 魏丽萍; 杨晓旭; 杨志仙; 刘晓燕; 姜玉武; 吴希如
收藏  |  浏览/下载：10/0  |  提交时间：2017/12/03
APPROXIMATELY 10% OF "DE NOVO" SCN1AMUTATIONS CAUSING DRAVET SYNDROME ARE INHERITED FROM UNDETECTED PARENTAL MOSAICISM 其他
2015-01-01
Zhang, Y-H.; Xu, X.; Yang, X.; Wu, Q.; Wu, X.; Wei, L.
收藏  |  浏览/下载：3/0  |  提交时间：2017/12/03

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