Fig. 1

A de novo p.R756C mutation in ATP1A3 identified in the present case. a Brain MRI at the first admission. No parenchymal lesions were detected. Sagittal T1 (upper left), axial fluid-attenuated inversion recovery (upper right), diffusion-weighted image (lower left), and apparent diffusion coefficient map (lower right) images are shown. b 99mTc-ECD-SPECT at the 22nd day of admission. The arrows denote the area with decreased perfusion in the left hemisphere and the right striatum with axial (upper) and coronal (lower) images. c A representative EEG recording on admission. Note that 8- to 9-Hz alpha rhythms are present over the occipital region (squared), whereas slow-wave bursts and epileptiform discharges are absent in the background. d General appearance of the present case at 7 years of age. The photograph shows dystonic posture with prominent choreoathetotic movements of the upper extremities. Written informed consent was obtained from the parents for the use of this image. e A de novo p.R756C mutation in the present case. Sequence chromatograms for the trio (father, mother, and the patient) are shown. C to T transition (c.2266C > T:p.R756C, red arrow) was present only in the patient and not in either of his parents. f The secondary structure of ATP1A3 protein with annotation for the p.R756C mutation. Trans-membrane domains (columns) and cytoplasmic and extracellular loops (black lines) of ATP1A3 are schematically presented. The mutated amino acid residue (red dot) and the two trans-membrane domains (M4 and M5) are annotated for ease of orientation. g Representative images of Western blotting. HEK293T cells were transfected either with an empty plasmid (−) or ATP1A3 (WT, D801N and R756C)-encoding plasmids. Specific signals of ATP1A3 (112 kDa) and actin-beta (ACTB, 42 kDa) are annotated with the black arrowheads. Upper bands of ATP1A3 indicate the non-specific signals (white arrowhead). Bar plots represent mean ± SD values for the relative signal intensity of ATP1A3 to that of ACTB (data from three independent experiments)