In experiments involving cells transfected with various mutants associated with AHC and RDP, transfection of RDP-associated mutants resulted in a notable decrease in ATP1A3 protein expression, whereas mutations leading to AHC did not significantly reduce ATP1A3 protein expression (de Carvalho et al., 2004; Heinzen et al., 2012). The gene discussed is ATP1A3; the disease is alternating hemiplegia of childhood.