PMC8164014_01
Representative EEG traces of 10 seconds, showing generalized spike wave complexes (3 Hz). Maximal in amplitude in temporal regions (300 microV), represented by the black arrow.
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EEG showed generalized epileptiform activity, with maximal amplitudes in the left hemisphere (Fig. 1).
Second hit hypothesis of PPFIA4 and POLG, adjusted from Hikmat et al., 2017. The proposed, digenic model is likely the result of additive heterozygous effects in two functionally remotely linked genes.
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This quantitative analysis (Table S1) and qualitative analysis (Table S2) suggest that both variants could be pathogenic and the combination of these variants may explain our patient's phenotype (Fig. 2).