The ATP1A3 mutations are common in the conserved transmembrane or N-terminus domain of NKA and are related to rare disorders, such as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pescavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. This evidence concerns the gene ATP1A3 and alternating hemiplegia of childhood.