Only from Sasaki et al.[80] there are findings of 2 patients carrying 2 different ATP1A3 variants, c.460A>G(p.Met154Val) and c.1050C>A(p.Asn350Lys), who showed slow progressive cerebellar ataxia in the infantile period in the absence of paroxysms or episodic symptoms. This evidence concerns the gene ATP1A3 and aceruloplasminemia.