For example, ATP1A3 D923N and R756H could present RDP or intermediate AHC/RDP phenotype (Zanotti-Fregonara et al., 2008; Anselm et al., 2009; Brashear et al., 2012; Tan et al., 2015), while ATP1A3 variants 1013Ydul, E277K, D923N were linked with the phenotype of RDP or AHC (Termsarasab et al., 2015). The gene discussed is ATP1A3; the disease is dystonia 12.