Episodic Ataxia type 2 (EA2) is the most frequent subtype of episodic ataxia caused by loss-of- function mutations in the CACNA1A gene encoding the alpha1A subunit of P/Q type voltage-gated Ca2+ channels (Cav2.1) mainly expressed in Purkinje and granule cells in the cerebellum (Jen et al., 2007). Here, CACNA1A is linked to episodic ataxia type 2.