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The condition must be confirmed by genetic testing demonstrating variants in POMC, PCSK1, or LEPR genes that are interpreted as pathogenic, likely pathogenic, or of a variant of uncertain significance (VUS)
doi: 10.1080/03602532.2023.2177671 [DOI] [PubMed] [Google Scholar] 55.Bolton JL, Dunlap T
Figure 8 Table 1 Summary of the genes, seizure types, and EEG characteristics of mitochondrial disease-related epilepsy
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