Kvx.y-channelASD, Navx.y-channelASD, Cavx.y-channelASD and channelASD-channelepsy phenotype
Perugia is an ancient university city in Central Italy. If you live in North America you may recall it in connection with a high profile murder trial. You probably would not expect it to produce clever insights into autism. In fact, Italy is a rare country outside the US that has leading autism researchers. Today’s post is to draw your attention to very insightful paper about some of the ion channel dysfunctions in autism. This paper is about those concerning potassium. The nice touch was their suggestion that we could classify some people with ASD, some with epilepsy and some people with both, by their ion channel dysfunction. So if like some people, you have a dysfunction of the L-type calcium channel Ca v 1.2, you would become:- Ca v 1.2 - channelASD Somebody with Dravet Syndrome (epilepsy) with ASD, would become:- Na v 1.1channelASD-channelepsy The underlying assumption by the authors is that a type of single ion channel dysfunction, generally triggered by the unde...