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 system...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 this paper, we analyzed the genotypes, functional alterations（funotypes）, and phenotypes of these mutations. Eleven genes featured loss-offunction mutations and six had gain-of-function mutations.Nine genes displayed diversified funotypes, among which a distinct funotype-phenotype correlation was found in SCN1A. These data suggest that the funotype is an essential consideration in evaluating the pathogenicity of mutations and a distinct funotype or funotype-phenotype correlation helps to define the pathogenic potential of a gene.展开更多
癫痫（epilepsy）是一种世界范围内常见的神经系统疾病。据世界卫生组织（World Health Organiza—tion，WHO）的报告显示，癫痫的患病率在5．0‰～11．2％0，即大约全球有5000万的活动性癫痫患者（经常有癫痫发作并需要抗癫痫药物维持...癫痫（epilepsy）是一种世界范围内常见的神经系统疾病。据世界卫生组织（World Health Organiza—tion，WHO）的报告显示，癫痫的患病率在5．0‰～11．2％0，即大约全球有5000万的活动性癫痫患者（经常有癫痫发作并需要抗癫痫药物维持治疗者）。展开更多
目的:通过检测海人酸致痫大鼠海马神经元PI3K、AKt和m TOR的表达,探讨姜黄素对癫痫大鼠神经元保护的分子机制。方法:采用海人酸注射诱导大鼠癫痫造模,造模前用姜黄素干预7天。免疫组化方法检测大鼠海马神经元PI3K、AKt、m TOR蛋白表达,...目的:通过检测海人酸致痫大鼠海马神经元PI3K、AKt和m TOR的表达,探讨姜黄素对癫痫大鼠神经元保护的分子机制。方法:采用海人酸注射诱导大鼠癫痫造模,造模前用姜黄素干预7天。免疫组化方法检测大鼠海马神经元PI3K、AKt、m TOR蛋白表达,采用RT-PCR技术检测大鼠海马神经元PI3K、AKt、m TOR mRNA表达。结果:免疫组化结果显示,海人酸组神经元PI3K、AKt、m TOR蛋白表达较正常组降低(P<0.05),姜黄素组神经元的PI3K、AKt、m TOR蛋白表达较海人酸组增加(P<0.05)。RT-PCR结果显示,海人酸组海马神经元PI3K、AKt、m TOR mRNA表达水平与正常组比较显著降低(P<0.05),姜黄素组海马神经元PI3K、AKt、m TOR mRNA表达水平与海人酸组比较显著增高(P<0.05)。结论:姜黄素能够保护海人酸致痫大鼠的神经元损伤,其分子机制可能与上调PI3K/AKt/m TOR表达有关。展开更多
基金supported by the National Natural Science Foundation of China (81571273,81571274,81501124,81271434,and 81301107)Omics-based precision medicine of epilepsy being entrusted by Key Research Project of the Ministry of Science and Technology of China (2016YFC0904400)+5 种基金the Natural Science Foundation of Guangdong Province,China (2014A030313489)Science and Technology Planning Projects of Guangdong Province,China (2012B031800404 and 2013B051000084)the Department of Education of Guangdong Province,China (2013CXZDA022,2013KJCX0156,and 2012KJCX009)the Foundation for High-level Talents in Higher Education of Guangdong Province,China (2013-167)Yangcheng Scholar Research Projects of Guangzhou Municipal College (12A016S and 12A017G)Science and Technology Projects of Guangzhou,Guangdong Province,China (2014J4100069,201508020011,201604020161,and 201607010002)
文摘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 this paper, we analyzed the genotypes, functional alterations（funotypes）, and phenotypes of these mutations. Eleven genes featured loss-offunction mutations and six had gain-of-function mutations.Nine genes displayed diversified funotypes, among which a distinct funotype-phenotype correlation was found in SCN1A. These data suggest that the funotype is an essential consideration in evaluating the pathogenicity of mutations and a distinct funotype or funotype-phenotype correlation helps to define the pathogenic potential of a gene.
文摘目的:通过检测海人酸致痫大鼠海马神经元PI3K、AKt和m TOR的表达,探讨姜黄素对癫痫大鼠神经元保护的分子机制。方法:采用海人酸注射诱导大鼠癫痫造模,造模前用姜黄素干预7天。免疫组化方法检测大鼠海马神经元PI3K、AKt、m TOR蛋白表达,采用RT-PCR技术检测大鼠海马神经元PI3K、AKt、m TOR mRNA表达。结果:免疫组化结果显示,海人酸组神经元PI3K、AKt、m TOR蛋白表达较正常组降低(P<0.05),姜黄素组神经元的PI3K、AKt、m TOR蛋白表达较海人酸组增加(P<0.05)。RT-PCR结果显示,海人酸组海马神经元PI3K、AKt、m TOR mRNA表达水平与正常组比较显著降低(P<0.05),姜黄素组海马神经元PI3K、AKt、m TOR mRNA表达水平与海人酸组比较显著增高(P<0.05)。结论:姜黄素能够保护海人酸致痫大鼠的神经元损伤,其分子机制可能与上调PI3K/AKt/m TOR表达有关。
