CACNA1A and aceruloplasminemia: In this sense, the link between enhanced CaV2.1-mediated Ca2+ influx (as described here for the ΔF1502 mutant channel) and permanent or congenital ataxia can be inferred from studies of the homozygous KI mouse carrying the human pathogenic FHM CACNA1A S218L mutation (Cacna1aS218L/S218L), which exhibits the main features of the severe clinical syndrome linked to this mutation, including mild permanent cerebellar ataxia [66].