– K346T: gain-of-function: leads to (i) enhanced the channel’s stability at the plasma membrane; (ii) reduced protein ubiquitylation and degradation; (iii) altered protein compartmentalization in lipid rafts, by targeting more channels to cholesterol-poor domains; (iv) reduced interactions with caveolin 2. Found in two identical twins affected by epilepsy, impaired social interaction, absence of speech, repetitive behaviors and intellectual disability. This evidence concerns the gene CAV2 and epilepsy.