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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.

Original publication

DOI

10.1016/j.molbrainres.2005.05.003

Type

Journal article

Journal

Brain Res Mol Brain Res

Publication Date

13/09/2005

Volume

139

Pages

178 - 183

Keywords

Animals, Genetic Predisposition to Disease, Genetic Variation, Humans, Mice, Models, Molecular, Mutation, Missense, Patch-Clamp Techniques, Potassium Channels, Inwardly Rectifying, Protein Structure, Tertiary, Rats, Seizures