Human TIMM50 mutations lead to neurological effects, including mitochondrial epileptic encephalopathy, intellectual disability, seizure disorders like infantile spasms, and severe hypotonia accompanied by 3-methylglutaconic aciduria (Serajee, 2015; Shahrour et al., 2017; Tort et al., 2019; Reyes et al., 2018; Mir et al., 2020; Moudi et al., 2022). Here, TIMM50 is linked to infantile spasms.