Some KCTD7-PME patients also display features consistent with neuronal ceroid lipofuscinosis [or ceroid lipofuscinosis, neuronal (CLN)] characterized by the accumulation of intracellular autofluorescent lipid material (Mastrangelo et al., 2019; Staropoli et al., 2012). Here, KCTD7 is linked to progressive myoclonus epilepsy.