Lijun Shang , Christopher J. Lucchese , Shozeb Haider , Stephen J. Tucker
{"title":"与癫痫易感性相关的Kir4.1钾通道(KCNJ10)错义变异的功能特征","authors":"Lijun Shang , Christopher J. Lucchese , Shozeb Haider , Stephen J. Tucker","doi":"10.1016/j.molbrainres.2005.05.003","DOIUrl":null,"url":null,"abstract":"<div><p>Recent genetic linkage studies have identified an association between missense variations in the gene encoding the Kir4.1 potassium channel (KCNJ10) and seizure susceptibility phenotypes in both humans and mice. The results of this study demonstrate that these variations (T262S and R271C) do not produce any observable changes in channel function or in predicted channel structure. It is therefore unlikely that the seizure susceptibility phenotypes associated with these missense variations are caused by changes in the intrinsic functional properties of Kir4.1.</p></div>","PeriodicalId":100932,"journal":{"name":"Molecular Brain Research","volume":"139 1","pages":"Pages 178-183"},"PeriodicalIF":0.0000,"publicationDate":"2005-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.molbrainres.2005.05.003","citationCount":"31","resultStr":"{\"title\":\"Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility\",\"authors\":\"Lijun Shang , Christopher J. Lucchese , Shozeb Haider , Stephen J. Tucker\",\"doi\":\"10.1016/j.molbrainres.2005.05.003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Recent genetic linkage studies have identified an association between missense variations in the gene encoding the Kir4.1 potassium channel (KCNJ10) and seizure susceptibility phenotypes in both humans and mice. The results of this study demonstrate that these variations (T262S and R271C) do not produce any observable changes in channel function or in predicted channel structure. It is therefore unlikely that the seizure susceptibility phenotypes associated with these missense variations are caused by changes in the intrinsic functional properties of Kir4.1.</p></div>\",\"PeriodicalId\":100932,\"journal\":{\"name\":\"Molecular Brain Research\",\"volume\":\"139 1\",\"pages\":\"Pages 178-183\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2005-09-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1016/j.molbrainres.2005.05.003\",\"citationCount\":\"31\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular Brain Research\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0169328X05002044\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Brain Research","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0169328X05002044","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility
Recent genetic linkage studies have identified an association between missense variations in the gene encoding the Kir4.1 potassium channel (KCNJ10) and seizure susceptibility phenotypes in both humans and mice. The results of this study demonstrate that these variations (T262S and R271C) do not produce any observable changes in channel function or in predicted channel structure. It is therefore unlikely that the seizure susceptibility phenotypes associated with these missense variations are caused by changes in the intrinsic functional properties of Kir4.1.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
