Using a neural network model to understand KCNA6 p.Lys376Val variant induced loss of function in childhood epilepsy
Lordstrong Akano, Jerome Clatot, C.B. Currin, Tim P. Vogels, Ethan M. Goldberg · FENS Forum 2024
We recently identified a novel p.Lys376Val variant in KCNA6–encoding the voltage-gated potassium channel Kv1.6–that has been implicated in childhood epilepsy. Here, we aimed to identify the mechanisms by which the variant could contribute to disease.We first synthesized WT and p.Lys376Val KCNA6 and subcloned the cDNA in p.GFP-IRES plasmids. WT, p.Lys376Val and WT + p.Lys376Val (at a 50:50 ratio) were transfected in HEK-293T cells. We characterized the resulting potassium currents using standard voltage clamp techniques. When expressed alone, the KCNA6-p.Lys376Val variant led to a 50% decrease
ePoster · Neuroscience