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Splice-site Mutations in SCN1A Cause Epilepsies with Febrile Seizures: Mechanisms and Correlations w
[会议论文] 作者：Heng Meng,Bin Tang,Yong-Hong Yi,Wei-Ping Liao,
来源：广东省医学会第十五次神经病学学术会议暨第五届粤港澳神经病学学术会议 年份：2013
Purpose: The sodium channel α1 subunit (SCN1A) gene is associated with febrile seizures (FS)-related epilepsies.The mutation types of SCN1A, such as truncation, splice-site and missense mutations, are...
[会议论文] 作者：Li-Feng QIU,Ting-Jia LU,Xiao-Ling HU,Yong-hong YI,Zhi-Qi XIONG,
来源：中国神经科学学会第四次会员代表大会暨第七届全国学术会议(The 7th Biennial Meeting and the 年份：2007
Fragile X syndrome (FXS),caused by silencing of the fmr1 gene,is the most common form of inherited mental retardation.Epilepsy is reported to occur in 20 to 25% of individuals with FXS.However,no over...
Identification of a third promoter in human voltage-gated sodium channel SCN1A gene and repression o
[会议论文] 作者：Yue-Sheng LONG,Guang-Fei DENG,Jia-Ming QIN,Qi-Hua ZHAO,Yong-Hong YI,Wei-Ping LIAO,
来源：中国神经科学学会第九届全国学术会议暨第五届会员代表大会 年份：2011
Objective Voltage-gated sodium channel α subunit type Ⅰ (Nav1.1) is mainly expressed in the central nervous system.Abnormal expression of SCN1A (encoding Nav1.1) is associated with epilepsy.Two SCN1A...
[期刊论文] 作者：Feng Wei,Li-Min Yan,Tao Su,Na He,Zhi-Jian Lin,Jie Wang,Yi-Wu Shi,Yong-Hong Yi,Wei-Ping Liao,,
来源：Neuroscience Bulletin 年份：2017
Ion channels are crucial in the generation and modulation of excitability in the nervous system and have been implicated in human epilepsy. Forty-one epilepsyas...
[会议论文] 作者：Wei-Ping LIAO,Yi-Wu SHI,Yue-Sheng LONG,Yang ZENG,Tao SU,Na HE,Bing-Mei LI,Xiao-Rong LIU,Yong-Hong YI,
来源：中国神经科学学会第九届全国学术会议暨第五届会员代表大会 年份：2011
Objective Generalized epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy in infancy (SMEI) are associated with sodium channel α-subunit type-1 gene (SCN1A) mutations, although p...
Ion Channel Genes and Epilepsy: Functional Alteration,Pathogenic Potential, and Mechanism of Epileps
[期刊论文] 作者：Feng Wei,Li-Min Yan,Tao Su,Na He,Zhi-Jian Lin,Jie Wang,Yi-Wu Shi,Yong-Hong Yi,Wei-Ping Liao,
来源：神经科学通报（英文版） 年份：2017
Ion channels are crucial in the generation and modulation of excitability in the nervous system and have been implicated in human epilepsy.Forty-one epilepsyassociated ion channel genes and their mutations are systematically reviewed.In thi......
[会议论文] 作者：Lu Yu,Yi-Wu Shi,Mei-Mei Gao,Bing-Mei Li,Wei-Yi Deng,Na He,Xiao-Rong Liu,Heng Meng,Yong-Hong Yi,Wei-Ping,
来源：第九次全国脑电图与癫痫诊治进展高级讲授班及学术研讨会 年份：2013
Purpose: Tocharacterizetheclinicaland genetic features of febrile seizures related epilepsy in Chinese patients.Methods :Total 940 patients were divided into 5 groups,which included repetitive febrile...
EN-064 Familial epilepsy with febrile seizures plus caused by SCN1A mutations and the role of mosaic
[会议论文] 作者：Yi-Wu Shi,Wei-Ping Liao,Mei-Juan Yu,Wei-Yi Deng,Xiao-Rong Liu,Mei-Mei Gao,Li Chen,Yue-Sheng Long,Yong-Hong Yi,
来源：第十二届全国神经病学学术会议 年份：2009
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Quantitative features of SCN1A associated epilepsies:relationships among genotype,functional alterat
[会议论文] 作者：Wei-Ping Liao,Heng Meng,Hai-Qing Xu,Lu Yu,Guo-Wang Lin,Na He,Tao Su,Yi-Wu Shi,Jie Wang,Yong-Hong Yi,
来源：The 6th FAONS Congress and 11th Biennial Conference of CNS(第 年份：2015
Mutations in SCN1A gene have been identified in epilepsies with widely variable severity,ranging from the extremely severe form of severe myoclonic epilepsy of infancy to the mild form of generalized...
The SCN1A mutation database: updating information and analysis on relations among genotype,functiona
[会议论文] 作者：Meng,Hai-Qing Xu,Lu Yu,Guo-Wang Lin,Na He,Tao Su,Yi-Wu Shi,Xiao-Rong Liu,Bin Tang,Yue-Sheng Long,Yong-Hong Yi,
来源：广东省医学会第十七次神经病学学术会议暨第七届粤港澳神经病学学术会议 年份：2015
Mutations in SCN1A gene have been identified in patients of epilepsy with widely varying phenotype and inheritance, and also in asymptomatic individuals.This raises challenges in evaluating the signif...
Promoter analysis of mouse Scn3a gene and regulation of the promoter activity by GC box and CpG meth
[会议论文] 作者：Guang-Fei DENG,Yong-Hong YI,Wei-Ping LIAO,Yue-Sheng LONG,Jia-Ming QIN,Xun-Sha SUN,Zu-Ying KUANG,Tao SU,
来源：中国神经科学学会第九届全国学术会议暨第五届会员代表大会 年份：2011
Voltage-gated sodium channel α-subunit type Ⅲ (Nav1.3) is mainly expressed in the central nervous system and is associated with neurological disorders.The expression of mouse Scn3a product (Nav1.3) ma...
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