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Figure 1.
A – Spike-polyspike-wave epileptiform activity of a high index in the right frontotemporal leads (4 y.o). B – Sharp-slow wave complexes in the right fronto-centrotemporal leads, periodically with diffuse spread (9 y.o).
Figure 2.
The patient is nine years old. The stereotypical movements of the hand (twisting objects, putting hands in the mouth) are observed.
Figure 3.
Iron accumulation in the substantia nigra and globus pallidus in T2-weighted (a, b) and FLAIR (c, d) scans
Figure 4.
Sanger sequencing demonstrated that the proband is heterozygous for the c.755T>C variant of the WDR45 gene (NM_001029896.2). De novo origin was shown with the unaffected patient’s mother and father.