Recently, single case reports and short case series have described patients with congenital (non-episodic) ataxia, with or without cerebellar atrophy, carrying missense CACNA1A mutations [8,9], located around pore regions, voltage-sensing regions and S4-S5 linkers connecting these two functional modules of CaV2.1 [8]. Here, CACNA1A is linked to cerebellar ataxia.