Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders

por Guo, Yu-Xiong, Ma, Hong-Xia, Zhang, Yu-Xin, Chen, Zhi-Hong, Zhai, Qiong-Xiang
Publicado 2021

H258R mutation in KCNAB3 gene in a family with genetic epilepsy and febrile seizures plus

por Ding, Jian, Miao, Qin‐Fei, Zhang, Jing‐Wen, Guo, Yu‐Xiong, Zhang, Yu‐Xin, Zhai, Qiong‐Xiang, Chen, Zhi‐Hong
Publicado 2020

Functional characterization of a KCNAB3 genetic epilepsy with febrile seizures plus adult mouse model

por Ding, Jian, Wang, Chun, Huang, Guo-Qiang, Zhang, Jing-Wen, Zhai, Qiong-Xiang, Chen, Zhi-Hong, Zhang, Yu-Xin, Guo, Yu-Xiong
Publicado 2022

Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca(2+)-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe ep...

por Chen, Zhi-Hong, Wang, Chun, Zhuo, Mu-Qing, Zhai, Qiong-Xiang, Chen, Qian, Guo, Yu-Xiong, Zhang, Yu-Xin, Gui, Juan, Tang, Zhi-Hong, Zeng, Xiao-Lu
Publicado 2017

ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus

por Tian, Yang, Zhai, Qiong-Xiang, Li, Xiao-Jing, Shi, Zhen, Cheng, Chuan-Fang, Fan, Cui-Xia, Tang, Bin, Zhang, Ying, He, Yun-Yan, Li, Wen-Bin, Luo, Sheng, Hou, Chi, Chen, Wen-Xiong, Liao, Wei-Ping, Wang, Jie
Publicado 2022

DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect

por Liu, Liu, Chen, Zi-Rong, Xu, Hai-Qing, Liu, De-Tian, Mao, Yong, Liu, Han-Kui, Liu, Xiao-Rong, Zhou, Peng, Lin, Si-Mei, Li, Bin, He, Na, Su, Tao, Zhai, Qiong-Xiang, Meng, Heng, Liao, Wei-Ping, Yi, Yong-Hong
Publicado 2020

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

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