Fig. 1

Structural location of ATP1A2 mutations. a Phenotypic distribution of ATP1A2 missense mutations (colored circles, n = 83). Ten transmembrane segments are shown as blue cylinders. b ATP1A2 mutant residues are shown as spheres and divided into four groups: pure HM (green), HM with epilepsy (magenta), HM with ataxia (yellow) and HM with intellectual disability (with or without epilepsy) (red) according to the clinical symptoms of patients. The intracellular loops are shown in the top view, indicating that mutations causing severe HM (accompanied by intellectual disability) were closer to Mg²⁺ (blue) near the phosphorylation site. c The structural locations and phenotypes of the ten mutations investigated in this study