Recent findings indicate that Cav2.1 channel deficiency due to loss-of-function mutations in human CACNA1A can cause a variety of cognitive impairments and epileptic manifestations, such as cerebellar ataxia (Izquierdo-Serra et al., 2020), intellectual disability (Damaj et al., 2015), and childhood-onset refractory epileptic encephalopathy (Le Roux et al., 2021). This evidence concerns the gene CACNA1A and aceruloplasminemia.