SHROOM4 Variants Are Associated With X-Linked Epilepsy With Features of Generalized Seizures or Generalized Discharges

por Bian, Wen-Jun, Li, Zong-Jun, Wang, Jie, Luo, Sheng, Li, Bing-Mei, Gao, Liang-Di, He, Na, Yi, Yong-Hong
Publicado 2022

Variants in BSN gene associated with epilepsy with favourable outcome

por Ye, Tingting, Zhang, Jiwei, Wang, Jie, Lan, Song, Zeng, Tao, Wang, Huaili, He, Xuelian, Li, Bing-Mei, Deng, Weiwen, Liao, Wei-Ping, Liu, Xiao-Rong
Publicado 2023

Few individuals with Lennox-Gastaut syndrome have autism spectrum disorder: a comparison with Dravet syndrome

por He, Na, Li, Bing-Mei, Li, Zhao-Xia, Wang, Jie, Liu, Xiao-Rong, Meng, Heng, Tang, Bin, Bian, Wen-Jun, Shi, Yi-Wu, Liao, Wei-Ping
Publicado 2018

RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia

por Ma, Mei-Gang, Liu, Xiao-Rong, Wu, Yuan, Wang, Jie, Li, Bing-Mei, Shi, Yi-Wu, Su, Tao, Li, Bin, Liu, De-Tian, Yi, Yong-Hong, Liao, Wei-Ping
Publicado 2021

PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation

por Liu, De-Tian, Tang, Xue-Qing, Wan, Rui-Ping, Luo, Sheng, Guan, Bao-Zhu, Li, Bin, Liu, Li-Hong, Li, Bing-Mei, Liu, Zhi-Gang, Xie, Long-Shan, Yi, Yong-Hong
Publicado 2022

Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance

por Liu, Xiao-Rong, Bian, Wen-Jun, Wang, Jie, Ye, Ting-Ting, Li, Bing-Mei, Liu, De-Tian, Tang, Bin, Deng, Wei-Wen, Shi, Yi-Wu, Su, Tao, Yi, Yong-Hong, Liao, Wei-Ping
Publicado 2020

GRIN2A Variants Associated With Idiopathic Generalized Epilepsies

por Liu, Xiao-Rong, Xu, Xing-Xing, Lin, Si-Mei, Fan, Cui-Ying, Ye, Ting-Ting, Tang, Bin, Shi, Yi-Wu, Su, Tao, Li, Bing-Mei, Yi, Yong-Hong, Luo, Jian-Hong, Liao, Wei-Ping
Publicado 2021

Endoplasmic reticulum retention and degradation of a mutation in SLC6A1 associated with epilepsy and autism

por Wang, Jie, Poliquin, Sarah, Mermer, Felicia, Eissman, Jaclyn, Delpire, Eric, Wang, Juexin, Shen, Wangzhen, Cai, Kefu, Li, Bing-Mei, Li, Zong-Yan, Xu, Dong, Nwosu, Gerald, Flamm, Carson, Liao, Wei-Ping, Shi, Yi-Wu, Kang, Jing-Qiong
Publicado 2020

SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation

por Luo, Sheng, Ye, Xing-Guang, Jin, Liang, Li, Huan, He, Yun-Yan, Guan, Bao-Zhu, Gao, Liang-Di, Liang, Xiao-Yu, Wang, Peng-Yu, Lu, Xin-Guo, Yan, Hong-Jun, Li, Bing-Mei, Chen, Yong-Jun, Liu, Zhi-Gang
Publicado 2023

Paroxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene

por Liu, Xiao-Rong, Huang, Dan, Wang, Jie, Wang, Yi-Fan, Sun, Hui, Tang, Bin, Li, Wen, Lai, Jin-Xing, He, Na, Wu, Mei, Su, Tao, Meng, Heng, Shi, Yi-Wu, Li, Bing-Mei, Tang, Bei-Sha, Liao, Wei-Ping
Publicado 2016

CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications

por Li, Xue-Lian, Li, Zong-Jun, Liang, Xiao-Yu, Liu, De-Tian, Jiang, Mi, Gao, Liang-Di, Li, Huan, Tang, Xue-Qing, Shi, Yi-Wu, Li, Bing-Mei, He, Na, Li, Bin, Bian, Wen-Jun, Yi, Yong-Hong, Cheng, Chuan-Fang, Wang, Jie
Publicado 2022

CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia

por Liu, Xiao‐Rong, Ye, Ting‐Ting, Zhang, Wen‐Jun, Guo, Xuan, Wang, Jie, Huang, Shao‐Ping, Xie, Long‐Shan, Song, Xing‐Wang, Deng, Wei‐Wen, Li, Bing‐Mei, He, Na, Wu, Qian‐Yi, Zhuang, Min‐Zhi, Xu, Meng, Shi, Yi‐Wu, Su, Tao, Yi, Yong‐Hong, Liao, Wei‐Ping
Publicado 2021

Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy

por Luo, Sheng, Liu, Zhi-Gang, Wang, Juan, Luo, Jun-Xia, Ye, Xing-Guang, Li, Xin, Zhai, Qiong-Xiang, Liu, Xiao-Rong, Wang, Jie, Gao, Liang-Di, Liu, Fu-Li, Ye, Zi-Long, Li, Huan, Gao, Zai-Fen, Guo, Qing-Hui, Li, Bing-Mei, Yi, Yong-Hong, Liao, Wei-Ping
Publicado 2022

UNC13B variants associated with partial epilepsy with favourable outcome

por Wang, Jie, Qiao, Jing-Da, Liu, Xiao-Rong, Liu, De-Tian, Chen, Yan-Hui, Wu, Yi, Sun, Yan, Yu, Jing, Ren, Rong-Na, Mei, Zhen, Liu, Yu-Xi, Shi, Yi-Wu, Jiang, Mi, Lin, Si-Mei, He, Na, Li, Bin, Bian, Wen-Jun, Li, Bing-Mei, Yi, Yong-Hong, Su, Tao, Liu, Han-Kui, Gu, Wei-Yue, Liao, Wei-Ping
Publicado 2021

HLA Risk Alleles in Aromatic Antiepileptic Drug-Induced Maculopapular Exanthema

por Shi, Yi-Wu, Wang, Jie, Min, Fu-Li, Bian, Wen-Jun, Mao, Bi-Jun, Mao, Yong, Qin, Bing, Li, Bing-Mei, Ou, Yang-Mei, Hou, Yun-Qi, Zou, Xin, Guan, Bao-Zhu, He, Na, Chen, Yong-Jun, Li, Xue-Lian, Wang, Juan, Deng, Wei-Yi, Liu, Han-Kui, Shen, Nan-Xiang, Liu, Xiao-Rong, Yi, Yong-Hong, Zhou, Lie-Min, Zhou, Dong, Kwan, Patrick, Liao, Wei-Ping
Publicado 2021

HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism

por He, Na, Guan, Bao‐Zhu, Wang, Jie, Liu, Han‐Kui, Mao, Yong, Liu, Zhi‐Gang, Yin, Fei, Peng, Jing, Xiao, Bo, Tang, Bei‐sha, Zhou, Dong, Huang, Guang, Dai, Qi‐Lin, Zeng, Ying, Han, Hong, Zhai, Qiong‐Xiang, Li, Bin, Tang, Bin, Li, Wen‐Bin, Song, Wang, Liu, Liu, Shi, Yi‐Wu, Li, Bing‐Mei, Su, Tao, Zhou, Peng, Liu, Xiao‐Rong, Guo, Li‐Wu, Yi, Yong‐Hong, Liao, Wei‐Ping
Publicado 2023

HLA-A*24:02 as a common risk factor for antiepileptic drug–induced cutaneous adverse reactions

por Shi, Yi-Wu, Min, Fu-Li, Zhou, Dong, Qin, Bin, Wang, Juan, Hu, Fa-Yun, Cheung, Ying-Kit, Zhou, Jin-Hua, Hu, Xiang-Shu, Zhou, Jue-Qian, Zhou, Lie-Min, Zheng, Zhong-zheng, Pan, Jie, He, Na, Liu, Zhi-Sheng, Hou, Yun-Qi, Lim, Kheng-Seang, Ou, Yang-mei, Hui-Ping Khor, Amy, Ng, Ching-Ching, Mao, Bi-Jun, Liu, Xiao-Rong, Li, Bing-Mei, Kuan, Yao-Yun, Yi, Yong-Hong, He, Xue-lian, Deng, Xiao-Yan, Su, Tao, Kwan, Patrick, Liao, Wei-Ping
Publicado 2017