Autosomal dominant mutations in ATP1A3 have been associated with a broad array of well-characterized phenotypes including Dystonia-12 (also known as Rapid-onset Dystonia Parkinsonism [RDP], MIM 128235), Cerebellar ataxia-Areflexia-Pes Cavus, Optic Atrophy-Sensorineural Hearing Loss [CAPOS] syndrome (MIM601338), developmental and epileptic encephalopathy 99 (MIM 619606), and alternating hemiplegia of childhood 2 (AHC2, MIM 614820). Here, ATP1A3 is linked to Rapid-onset dystonia-parkinsonism.