Previously, eight YWHAG mutations Glu15Ala, Arg57Gly, Arg57Cys, Asp129Glu, Arg132Cys, Tyr133Ser, Leu177Ile, and Asn178Asp were identified in twelve patients with EE (Guella et al., 2017; Kanani et al., 2020). The gene discussed is YWHAG; the disease is ethylmalonic encephalopathy.