Literature DB >> 15936844

Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.

Lijun Shang1, Christopher J Lucchese, Shozeb Haider, Stephen J Tucker.   

Abstract

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.

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Year:  2005        PMID： 15936844     DOI： 10.1016/j.molbrainres.2005.05.003

Source DB:  PubMed          Journal:  Brain Res Mol Brain Res        ISSN： 0169-328X


  11 in total

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