case_images: PMC10419215_01
case_images: Brain MRI of patient #1 showed multiple high signal intensities on DWI in the right frontotemporal cortex (A-F).
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case_images: F1
case_images: A brain MRI after this episode showed multiple high signal intensities on diffusion-weighted imaging (DWI) in the right frontotemporal cortex (Figure 1).
case_images: Video EEG monitoring of patient #1 showed persistent asymmetry between the right and left hemispheres and slow and sharp-slow wave emission in the right hemisphere. The absence of physiological waves in the right hemisphere is shown in A, B. The fuchsia rectangle above A, B indicates that Patient #1 is beginning to wake up.
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case_images: F2
case_images: The absence of physiological waves in the right hemisphere is shown in Figure 2.
case_images: Patient #1 captured a focal seizure during video-EEG monitoring (A-F). Seizures started at the red arrow and stopped at the purple arrow for a total duration of about 90 seconds.
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case_images: F3
case_images: During the same period, a focal seizure was monitored which lasted about 90 s (Figure 3).
case_images: Patient #1 was reexamined for video EEG monitoring on day 11 of illness (A, B).
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case_images: F4
case_images: The patient's review of video EEG monitoring on day 11 showed asymmetric background activity in the right and left occipital regions, with slow-wave coverage on the right side and predominantly slow and sharp slow-wave emission in the right hemisphere (Figure 4).
case_images: Patient #1 and his parents' whole-exome sequencing results. Patient #1 has a de nove mutation of c.674C>A (p. Pro225His), in exon 5 of the CACNA1A gene. Neither of his parents carried the disease-modifying mutation. The circles indicate the locus of variation.
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case_images: F5
case_images: Pro225His), in exon 5 of the CACNA1A gene (Figure 5).
case_images: The brain MRI of Patient #1 showed complete disappearance of abnormal signals 1.5 months after treatment (A-D).
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case_images: F6
case_images: After treatment for 1.5 months, a follow-up MRI showed complete disappearance of abnormal signals throughout the right hemispheric cortex (Figure 6).
case_images: PMC10419215_02
case_images: The whole-exome sequencing results of patient #2, his sister, and his parents. Patient #2 has a maternal mutation of c.2143G>A (p. Gly715Arg), in exon 16 of the ATP1A2 gene. The same mutations were confirmed in his sister. His father had no mutation at this locus. The arrows indicate the locus of variation.
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case_images: F7
case_images: Gly715Arg) in exon 16 of the ATP1A2 gene (Figure 7) previously reported as a pathogenic mutation. The same mutations were confirmed in the patient's mother and sister (Figure 7).