Figure 1.

Patient 21 has compound heterozygous mutations of SZT2, (A) c.C9055T (p.Arg3019Ter) (arrows) and (B) c.1496 + 2T > C (arrows), from the asymptomatic father and mother, respectively. Seizure onset occurred at 6 months old. His electroencephalogram shows developmental epileptic encephalopathy with multifocal epileptiform discharges. (C) The MRI shows a short and thick corpus callosum with missing of selenium (arrow). (D) Normal child with the same age demonstrates for comparison with patient. (E) Her examination was notable for macrocephaly, dysmorphic features, frontal bossing, hypertelorism, microphthalmia, depressed nasal bridge, long-tapered fingers, and hyperextensible joints. (F) Long-tapered fingers in the patient (red arrow).