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

Journal article

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.

Authors: Shang, L; Lucchese, C; Haider, S; Tucker, S

• Publication status: Published
• Journal: Brain research. Molecular brain research
• Volume: 139
• Issue: 1
• Pages: 178-183
• Publication date: 2005-09-01
• DOI: 10.1016/j.molbrainres.2005.05.003
• ISSN: 0169-328X
• Language: English
• Keywords: Patch-Clamp Techniques; Models, Molecular; Mice; Animals; Humans; Protein Structure, Tertiary; Mutation, Missense; Potassium Channels, Inwardly Rectifying; Rats; Seizures; Genetic Variation; Genetic Predisposition to Disease