title: Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.
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.
authors.affiliation: Oxford Centre for Gene Function, University Laboratory of Physiology, Parks Road, Oxford OX1 3PT, UK.
authors.forename: Lijun
authors.initials: L
authors.lastname: Shang
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Lucchese
authors.forename: Shozeb
authors.initials: S
authors.lastname: Haider
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Tucker
mesh_terms: D000818:Animals; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D051379:Mice; D008958:Models, Molecular; D020125:Mutation, Missense; D018408:Patch-Clamp Techniques; D024661:Potassium Channels, Inwardly Rectifying / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D017434:Protein Structure, Tertiary; D051381:Rats; D012640:Seizures / Q000235:genetics* / Q000503:physiopathology; D000098854:Kcnj10 Channel
chemical_list: D000098854:Kcnj10 Channel; D024661:Potassium Channels, Inwardly Rectifying