In humans, mutations in the ATP1A3 gene, which encodes the α3 isoform, are associated with several rare neurological disorders; rapid-onset dystonia parkinsonism (RDP; de Carvalho Aguiar et al., 2004); alternating hemiplegia of childhood (AHC; Heinzen et al., 2012; Rosewich et al., 2012); cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome (CAPOS; Demos et al., 2014); and relapsing encephalopathy with cerebellar ataxia (RECA; Dard et al., 2015), also known as fever-induced paroxysmal weakness and encephalopathy (FIPWE; Yano et al., 2017). Here, ATP1A3 is linked to dystonia 12.