The SCN1A Mutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype
Meng, Heng, Xu, Hai-Qing, Yu, Lu, Lin, Guo-Wang, He, Na, Su, Tao, Shi, Yi-Wu, Li, Bin, Wang, Jie, Liu, Xiao-Rong, Tang, Bin, Long, Yue-Sheng, Yi, Yong-Hong, Liao, Wei-Ping
Published in Human mutation (01.06.2015)
Published in Human mutation (01.06.2015)
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Ion Channel Genes and Epilepsy:Functional Alteration,Pathogenic Potential,and Mechanism of Epilepsy
Wei, Feng, Yan, Li-Min, Su, Tao, He, Na, Lin, Zhi-Jian, Wang, Jie, Shi, Yi-Wu, Yi, Yong-Hong, Liao, Wei-Ping
Published in Neuroscience bulletin (01.08.2017)
Published in Neuroscience bulletin (01.08.2017)
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Optimization of in silico tools for predicting genetic variants: individualizing for genes with molecular sub-regional stratification
Tang, Bin, Li, Bin, Gao, Liang-Di, He, Na, Liu, Xiao-Rong, Long, Yue-Sheng, Zeng, Yang, Yi, Yong-Hong, Su, Tao, Liao, Wei-Ping
Published in Briefings in bioinformatics (01.09.2020)
Published in Briefings in bioinformatics (01.09.2020)
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CELSR1 variants are associated with partial epilepsy of childhood
Chen, Zheng, Luo, Sheng, Liu, Zhi‐Gang, Deng, Yan‐Chun, He, Su‐Li, Liu, Xiao‐Rong, Yi, Yong‐Hong, Wang, Jie, Gao, Liang‐Di, Li, Bing‐Mei, Wu, Zhi‐Jun, Ye, Zi‐Long, Liang, De‐Hai, Bian, Wen‐Jun, Liao, Wei‐Ping
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.10.2022)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.10.2022)
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Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies
He, Na, Lin, Zhi-Jian, Wang, Jie, Wei, Feng, Meng, Heng, Liu, Xiao-Rong, Chen, Qian, Su, Tao, Shi, Yi-Wu, Yi, Yong-Hong, Liao, Wei-Ping
Published in Genetics in medicine (01.01.2019)
Published in Genetics in medicine (01.01.2019)
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ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
He, Ming-Feng, Liu, Li-Hong, Luo, Sheng, Wang, Juan, Guo, Jia-Jun, Wang, Peng-Yu, Zhai, Qiong-Xiang, He, Su-Li, Zou, Dong-Fang, Liu, Xiao-Rong, Li, Bing-Mei, Ma, Hai-Yan, Qiao, Jing-Da, Zhou, Peng, He, Na, Yi, Yong-Hong, Liao, Wei-Ping
Published in Journal of medical genetics (01.07.2024)
Published in Journal of medical genetics (01.07.2024)
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ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation
Wang, Jing-Yang, Zhou, Peng, Wang, Jie, Tang, Bin, Su, Tao, Liu, Xiao-Rong, Li, Bing-Mei, Meng, Heng, Shi, Yi-Wu, Yi, Yong-Hong, He, Na, Liao, Wei-Ping
Published in Neurogenetics (01.01.2018)
Published in Neurogenetics (01.01.2018)
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CELSR3 variants are associated with febrile seizures and epilepsy with antecedent febrile seizures
Li, Jia, Lin, Si‐Mei, Qiao, Jing‐Da, Liu, Xiao‐Rong, Wang, Jie, Jiang, Mi, Zhang, Jing, Zhong, Min, Chen, Xu‐Qin, Zhu, Jing, He, Na, Su, Tao, Shi, Yi‐Wu, Yi, Yong‐Hong, Liao, Wei‐Ping
Published in CNS neuroscience & therapeutics (01.03.2022)
Published in CNS neuroscience & therapeutics (01.03.2022)
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Variants in BRWD3 associated with X‐linked partial epilepsy without intellectual disability
Tian, Mao‐Qiang, Liu, Xiao‐Rong, Lin, Si‐Mei, Wang, Jie, Luo, Sheng, Gao, Liang‐Di, Chen, Xiao‐Bin, Liang, Xiao‐Yu, Liu, Zhi‐Gang, He, Na, Yi, Yong‐Hong, Liao, Wei‐Ping
Published in CNS neuroscience & therapeutics (01.02.2023)
Published in CNS neuroscience & therapeutics (01.02.2023)
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RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia
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
Published in Frontiers in neuroscience (07.04.2021)
Published in Frontiers in neuroscience (07.04.2021)
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CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia
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
Published in CNS neuroscience & therapeutics (01.10.2021)
Published in CNS neuroscience & therapeutics (01.10.2021)
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De novo GABRA1 variants in childhood epilepsies and the molecular subregional effects
Liu, Wen-Hui, Luo, Sheng, Zhang, Dong-Ming, Lin, Zi-Sheng, Lan, Song, Li, Xin, Shi, Yi-Wu, Su, Tao, Yi, Yong-Hong, Zhou, Peng, Li, Bing-Mei
Published in Frontiers in molecular neuroscience (10.01.2024)
Published in Frontiers in molecular neuroscience (10.01.2024)
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GRIN2A Variants Associated With Idiopathic Generalized Epilepsies
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
Published in Frontiers in molecular neuroscience (14.10.2021)
Published in Frontiers in molecular neuroscience (14.10.2021)
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DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect
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
Published in Frontiers in neuroscience (11.08.2020)
Published in Frontiers in neuroscience (11.08.2020)
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Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy
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
Published in Frontiers in molecular neuroscience (19.05.2022)
Published in Frontiers in molecular neuroscience (19.05.2022)
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CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications
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
Published in Frontiers in molecular neuroscience (04.05.2022)
Published in Frontiers in molecular neuroscience (04.05.2022)
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PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation
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
Published in Frontiers in neurology (26.07.2022)
Published in Frontiers in neurology (26.07.2022)
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HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism
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
Published in Clinical and translational medicine (01.06.2023)
Published in Clinical and translational medicine (01.06.2023)
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Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance
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
Published in Frontiers in genetics (15.10.2020)
Published in Frontiers in genetics (15.10.2020)
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HLA Risk Alleles in Aromatic Antiepileptic Drug-Induced Maculopapular Exanthema
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
Published in Frontiers in pharmacology (26.05.2021)
Published in Frontiers in pharmacology (26.05.2021)
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