DOLK and epilepsy: A few cases with biallelic pathogenic variants in DOLK (OMIM *610746) with severe multi-organ involvement encompassing profound muscular hypotonia, ichthyosiform skin, nystagmus, epilepsy, and pulmonary infections leading to death within the first months of life have also been described (Kranz et al., 2007; Lefeber et al., 2011; Lieu et al., 2013; Rush et al., 2017; Hall et al., 2020).