PMC9096209_01
(A) Interictal EEG at 6 years of age showing periodic occurrence of diffuse paroxysmal multiple spike-and-slow-wave complexes and usually a second or so of suppression seen thereafter. (B) Ictal EEG at 6 years of age indicating slow waves of high amplitude at 2-3 Hz with spike-and-wave complexes. (C) At 6.5 years of age, this EEG was taken when the seizure was controlled: no ictal episode was noted during monitoring.
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F1
During this period, interictal EEG during sleep showed periodic occurrence of diffuse paroxysmal multiple spike-and-slow-wave complexes, and usually, a second or so of suppression was seen thereafter (Figure 1A). Hz with spike-and-wave complexes (Figure 1B) along with impaired awareness and subtle clinical ictal phenomena. He was successfully weaned from the mechanical ventilator after withdrawal of phenobarbital and midazolam. The EEG showed no ictal episode during monitoring (Figure 1C).
PMC9096209_02
Sequencing chromatograms of the de novo variant in our patient (black arrow).
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F2
The mutation was confirmed by Sanger sequencing on an ABI 3730XL DNA Sequencer (Applied Biosystems, Thermo Fisher Scientific, United States) (Figure 2).