CAV2 and Intellectual disability: – 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.