检索结果-南通市图书馆

中国神经科学学会第九届全国学术会议暨第五次会员代表大会

作者： wei-ping liao institute of neurosciences and the 2nd affiliated hospital of guangzhou medical college Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China,guangzhou 510260,China

Recent studies have demonstrated that more than 80 genes are linked to monogenetic *** of these genes are related to ion ***1A remains to be the most relevant epilepsy gene so *** of the important features of the phenotypes of SCN1A mutations is the quantity-dependence,shown both experimentally in KO mouse and clinically in mosaic *** is thus suspected that the expression level of SCN1A may play a role the manifestation of *** promoter region and some non-coding exons of SCN1A have been identified *** is therefore possible to search genetic abnormalities in such regions in patients of epilepsy with febrile seizure plus(EFS+) but without mutations in coding exons.A variety of phenotypes and types of functional defect (funotypes) have been found in Na1.1 *** studies failed to correlate the funotypes with the phenotypes. Studies on the genotype-funotype-phenotype relationship will help us to understand the biological basis,and further in management,of *** will also be helpful in studying the normal physical functioning of the sodium channels.

关键词：

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

托吡酯治疗成人癫痫部分性发作

引用

中国新药与临床杂志 2003年第8期22卷 474-477页

作者：何小诗廖卫平朱蔚文广州医学院第二附属医院神经科学研究所广东广州510260

目的 :观察托吡酯单药和与不同抗癫痫药(AEDs)合用治疗成人癫痫部分性发作疗效、剂量和不良反应的关系。方法 :A组 (n =31)托吡酯与酶诱导剂AEDs合用 ;B组 (n =19)托吡酯与非酶诱导剂AEDs合用 ;C组 (n =5 1)单用托吡酯。托吡酯剂量为 :... 详细信息

目的 :观察托吡酯单药和与不同抗癫痫药(AEDs)合用治疗成人癫痫部分性发作疗效、剂量和不良反应的关系。方法 :A组 (n =31)托吡酯与酶诱导剂AEDs合用 ;B组 (n =19)托吡酯与非酶诱导剂AEDs合用 ;C组 (n =5 1)单用托吡酯。托吡酯剂量为 :开始 12 .5～ 2 5mg·d- 1,每周根据疗效增加12 .5～ 2 5mg·d- 1,分 2次口服 ,共 2 0wk。观察各组疗效、剂量和不良反应。结果 :A组有效率 61%,B组为 68%,C组为 88%,A和B组疗效相似 ,P >0 .0 5 ;C组疗效高于A和B组 ,P 2 1%,C组 31%,P >0 .0 5 ,2例合用卡马西平出现严重精神症状。结论 :托吡酯是治疗癫痫部分性发作有效药物 ,与不同AEDs合用在疗效、剂量和不良反应方面差异无显著意义。中枢神经系统少见严重不良反应 ,但值得重视。

关键词：成人癫痫托吡酯联合用药用药剂量不良反应

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

人及小鼠钠通道SCN3A基因的启动子及其上游调控区的分析

引用

生物化学与生物物理进展 2009年第3期36卷 339-345页

作者：龙跃生赵绮华曾涛曾杨孙卫文廖卫平广州医学院第二附属医院神经科学研究所神经遗传与离子通道病省部共建教育部重点实验室广州510260

为了比较研究人与小鼠SCN3A基因的启动子及其上游调控区的特征,采用5′-FullRACE方法对人及小鼠SCN3A基因的转录起始点进行了准确定位,通过序列测定及对比分析证明:确定人和小鼠SCN3A基因的转录起始点均为"A",人SCN3A基因转录起始点位... 详细信息

为了比较研究人与小鼠SCN3A基因的启动子及其上游调控区的特征,采用5′-FullRACE方法对人及小鼠SCN3A基因的转录起始点进行了准确定位,通过序列测定及对比分析证明:确定人和小鼠SCN3A基因的转录起始点均为"A",人SCN3A基因转录起始点位于翻译起始点上游约27kb处,而小鼠位于翻译起始点上游约31kb处.人SCN3A基因5′非翻译区存在两个5′非翻译外显子,而小鼠只有一个5′非翻译外显子.人和小鼠SCN3A基因核心启动子区(-80～+70)的同源率高达96.0%,存在相同的启动子核心元件,BRE/和TATA;在-400至+200区段内预测到人存在而小鼠不存在的转录因子有PHR1、GATA-1、FOXN2、NF-1及AP-4,小鼠存在而人不存在的转录因子Sp、Sp3及GBF.人和小鼠SCN3A启动子区特征的异同将为进一步研究该基因在人和小鼠的表达调控机制提供重要线索.

关键词：转录起始点电压门控型钠通道 SCN3A 启动子

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Identifying the promoter region of the human brain sodium channel subtype Ⅰ gene（SCN1A） and subtype Ⅲ gene（SCN3A）

Identifying the promoter region of the human brain sodium ch...

引用

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

作者： Yue-Sheng LONG,wei-ping liao~*,Qi-Hua ZHAO,Yi-Wu SHI,wei-Yi DENG,Tao SU,wei-Wen SUN,Mei-Mei GAO, Mei-Juan YU institute of Neuroscience,Second affiliated hospital,guangzhou medical college,guangzhou 510260,China

＜正＞Objective Voltage-gated sodium channels play critical role in the electrical excitability of the *** the known eleven sodium channel genes,four are broadly expressed throughout the central nervous system（CNS）:SCN1A,SCN2A, SCN3A,and SCN8A,which are also developmentally,regionally,and cellularly regulated in *** transcription of these genes may induce neurological *** the other hand,pathological insults can lead to alterations in sodium channel expression and ***,the transcriptional regulation of the sodium channel genes and its relationship with neurological disorders are poorly *** the CNS-specific sodium channels,the promoter regions and 5’ untranslated regions（UTRs） of human SCN2A and SCN8A have been described before,but the promoter regions and 5’ UTRs of human SCN1A and SCN3A have not been *** To identify the transcription start sites for SCN1A and SCN3A,5’-rapid amplification of cDNA ends（5’-RACE） was carried out on total RNA from human brain sections including hippocampus and cortex,and the reverse primer was located in the first coding exons of SCN1A and *** fragments were sequenced by cloning into pGEM-T *** blast analyses of the 5’-RACE products with human genomic sequence were performed using BLAST software from NCBI *** a 3-kb genomic fragment containing transcription initiator,untranslated exons and putative enhancers was cloned into the pGL4.10-Basic expression vector upstream of the firefly luciferase cDNA and the recombinant constructs were transformed into cultured neuroblast cells and HEK-293 *** promoter activities were assessed by Luciferase *** A 280-bp band for SCN1A and a 450-bp band for SCN3A were *** SCNIA,three untranslated exons（86 bp,92 bp and 49 bp,respectively） were dispersed in 5’ flanking region and the promoter was located 75 kb upstream of the first coding exon. For SCN3A,three untranslated exon（228 bp,197

关键词： promoter sodium channel 5’-RACE transcription element

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

Cloning and characterization of the transcription regulatory region of human voltage-gated sodium channel SCN3A Gene

Cloning and characterization of the transcription regulatory...

引用

中国神经科学学会第四次会员代表大会暨第八届全国学术会议

作者： Yue-Sheng LONG,Jia-Ming QIN,Xun-Sha SUN,Tao ZENG,Qi-Hua ZHAO,wei-ping liao~* institute of Neuroscience and the Second affiliated hospital of guangzhou medical college Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China,guangzhou 510260,China

＜正＞Voltage-gated sodium channels are responsible for the electrical excitability of the *** sodium channel genes are expressed broadly throughout the central nervous system（CNS）:SCN1 A,SCN2A,and *** in SCN1A and SCN2A are associated with several neurology disorders:epilepsy,familial hemiplegic migraine,and familial autism,and one mutation in SCN3A had been reported in a patient with cryptogenic pediatric partial *** in SCN3A transcript was found in animal seizure models,epileptic patients and peripheral nerve injury patients, which is believed to play a pivotal role in these *** date,the transcriptional mechanism of SCN3A is poorly *** identify the transcription start sites（TSS） for SCN3A,5’-rapid amplification of cDNA ends（5’-RACE） was carried out on human brain total RNA（Clontech） and the RACE products were sequenced by cloning into pGEM-T *** blast analysis of the 5’-RACE products with human genomic sequence was performed using BLAST software from NCBI *** characterize the functional promoter region and transcriptional regulatory elements,a 1.1- kb genomic fragment,5’deletion fragments and element-deletion fragments were cloned into the pGL4.10-basic expression vector upstream of the firefly luciferase cDNA and the recombinant constructs were transformed into cultured neuroblast cells and HEK-293 *** promoter activities were assessed by luciferase *** untranslated exon（228 bp, 197 bp and 50 bp respectively） were dispersed in 5’flanking region of human SCN3A and the TSS was located at 27.5 kb upstream of the first coding exon.A potential Initiator（INR）,an important element for general eukaryotic core promoter, was found at TSS.A mimic-TATA and a downstream regulatory element（DRE） were found at the -25 bp site and the +23 bp site,*** experiments demonstrated that the 1.1-kb genomic fragment was active in neuronal cell（SHSY5Y） and was inactive in non-

关键词： promoter transcription regulatory element sodium channel SCN3A

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

Partial epilepsy with antecedent febrile seizures plus characterized by antiepileptic drugs-induced seizure aggravation and loss of function of Nav1.1

Partial epilepsy with antecedent febrile seizures plus chara...

引用

中国神经科学学会第九届全国学术会议暨第五次会员代表大会

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 institute of Neuroscience and the Second affiliated hospital,guangzhou medical college,guangzhou 510260,China

＜正＞Objective Generalized epilepsy with febrile seizures plus（GEFS+）and severe myoclonic epilepsy in infancy（SMEI）are associated with sodium channel a-subunit type-1 gene（SCNIA）mutations,although previous studies failed to correlate the functional defects（funotypes）with *** seizures and partial epilepsy are the two common features of GEFS+ and *** is thus suspected that partial epilepsy with antecedent febrile seizures（PEFS+）may also be a phenotype of SCNIA *** aggravation induced by antiepileptic drugs（AEDs）,a feature of SMEI,is considered here as a clue to find SCNIA mutations in isolated PEFS+ patients. Methods Two isolated PEFS+ patients with AEDs-induced seizure aggravation were screened for mutations in SCNIA,SCN2A,SCN1B,and GABRG2 using denaturing high-performance liquid chromatography and direct *** biophysiological features of two newly defined mutants were studied in transfected tsA201 cells using whole-cell patch-clamp *** characterize PEFS+ biologically,the genotype-funotype-phenotype relationships in all previously reported SCNIA mutations were *** One PEFS+ patient each had heterozygous de novo mutations of c.2837G＞A/p.R946H and c.5295 T＞A/p.F1765L in SCNIA,which cause the loss of function of the *** the defining of PEFS+,classifying the funotype in detail,and considering the subtle differences in the amino acid substitution,a close genotype-funotype-phenotype relationship was found in epilepsies with SCNIA mutations at a submolecular ***+ is clinically mild,with also mild channel dysfunction and mutations outside the pore ***+ is clinically similar to GEFS+,but distinct from GEFS+ in its funotype and AEDs-induced seizure ***+ is much milder than SMEI clinically,similar to SMEI biophysiologically with features of loss of function but less in degree,structurally different from SMEI by substitutions without changes in polarity. Conclusions PEFS+ may

关键词： SCN1A channelopathy partial epilepsy febrile seizures sodium channel

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

Familial epilepsy with febrile seizures plus caused by SCNIA mutations and the role of mosaicism and mutation type in inheritance

Familial epilepsy with febrile seizures plus caused by SCNIA...

引用

中国神经科学学会第四次会员代表大会暨第八届全国学术会议

作者： Yi-Wu SHI Mei-Juan YU wei-Yi DENG Xiao-Rong LIU Mei-Mei GAO Li CHEN Yue-Sheng LONG Yong-Hong YI Bing-Mei LI Tao SU wei-ping liao~* institute of Neuroscience and the Second affiliated hospital of guangzhou medical college Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China guangzhou 510260 China

＜正＞Mutations in SCNIA,SCN2A,SCNIB,and GABRG2 were found in familial generalized epilepsy with febrile seizures plus（GEFS+）.The role of each gene in epilepsies with febrile seizures plus（EFS+）,which include GEFS+ and others like severe myoclonic epilepsy in infancy（SMEI）,is *** mutations of SCNIA have been reported in SMEI,and suspected to cause other types of familial EFS+.Here we screened mutations in the 4 genes in familial EFS+ by denaturing HPLC and *** level was quantified by *** SCNIA mutations were identified in the 23 families screened（21.7%）,including 2 mosaic *** mosaic earner has a～25.0%c.5768A＞G/p. Q1923R mutation,showed febrile seizures;another one has a～12.5%c.4847T＞C/p.I1616T,being *** heterozygous children showed partial epilepsy with antecedent febrile *** accounts for 50%（6/12） of the origin of inherited truncating and splice site mutations in previous reports,all related to *** of published data showed that inherited SCNl A mutations were found in 3.1%（6/191） of truncating mutations,10.7%（6/56） of splice site type,and 17.7%（42/237） of missense type（%2 test,P＜0.01）,suggesting mutation type may affect *** study, from a general epilepsy population in one center,suggests SCNl A mutation is an important cause of familial EFS+. Truncating or splice site mutations of SCN 1A could rarely be inherited,except *** novel findings of mosaic SCNl A missense mutantions in milder familial EFS+ emphasized the importace of mosaicism in the origin of EFS+,which is significant in genetic counselling.

关键词： epilepsy with febrile seizures plus+ SCN1A mosaicism inheritance

来源： cnki会议评论

在线全文

cnki会议

学校读者我要写书评

暂无评论

托吡酯治疗头面部神经痛

引用

中国新药与临床杂志 2001年第5期20卷 370-372页

作者：王延平杨少青王剑威廖卫平广州医学院第二附属医院神经科学研究所广东广州510260

目的 :观察托吡酯治疗头面部神经痛的疗效及安全性。方法 :将 58例头面部神经痛病人随机分为托吡酯组 30例 ,卡马西平组 2 8例。托吡酯组起始剂量 2 5mg ,po ,bid ,根据病情每周加用 2 5mg。卡马西平组起始剂量 10 0mg ,po ,bid ,根据... 详细信息

目的 :观察托吡酯治疗头面部神经痛的疗效及安全性。方法 :将 58例头面部神经痛病人随机分为托吡酯组 30例 ,卡马西平组 2 8例。托吡酯组起始剂量 2 5mg ,po ,bid ,根据病情每周加用 2 5mg。卡马西平组起始剂量 10 0mg ,po ,bid ,根据病情每周加用 10 0mg。疼痛缓解 2wk后停服并继续随访2wk ,治疗后wk 3统计总有效率。结果 :托吡酯组及卡马西平组缓解时间分别为 6.1d± 2 .7d及 7.1d± 2 .0d(P >0 .0 5) ,总有效率分别为 87%及 86%(P >0 .0 5)。不良反应发生率分别为 10 %及 7%。托吡酯组不良反应表现为头晕、感觉异常、嗜睡、视物模糊。结论 :托吡酯是治疗头面部神经痛有效。

关键词：托吡酯头面部神经痛卡马西平治疗抗癫痫药

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：