C121W Implicated in GEFS+ is a Thermosensitive Sodium Channel Mutation

Abstract

T1-tetramerisation domain of the Kv1.2 potassium channel. We demonstrate that expression of the NaChBac channel returns to near wild-type expression levels. In addition, the channel retains a tetrameric form following purification. We describe the effects of the potassium channel T1 domain on thermal stability and ligand-binding of the NaChBac channel. The recovery of NaChBac expression through expression of an alternative tetramerisation domain is consistent with similar studies on potassium channels and suggests that it is the presence rather than the nature of the tetramerisation domain that is key to channel assembly.