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. The gene discussed is ATP1A3; the disease is Leber hereditary optic neuropathy.