与癫痫易感性相关的Kir4.1钾通道（KCNJ10）错义变异的功能特征分析。
Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.
作者信息
Shang Lijun, Lucchese Christopher J, Haider Shozeb, Tucker Stephen J
机构信息
Oxford Centre for Gene Function, University Laboratory of Physiology, Parks Road, Oxford OX1 3PT, UK.
出版信息
Brain Res Mol Brain Res. 2005 Sep 13;139(1):178-83. doi: 10.1016/j.molbrainres.2005.05.003.
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.
最近的基因连锁研究已经确定，编码Kir4.1钾通道（KCNJ10）的基因中的错义变异与人类和小鼠的癫痫易感性表型之间存在关联。这项研究的结果表明，这些变异（T262S和R271C）不会在通道功能或预测的通道结构上产生任何可观察到的变化。因此，与这些错义变异相关的癫痫易感性表型不太可能是由Kir4.1内在功能特性的变化引起的。
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