Of the cases for which clinical data were available, 14% (27/188) of patients with ALDH7A1 deficiency had a phenotype consistent with infantile spasms (Basura et al., 2009; Bennett et al., 2009; Mills et al., 2010; Scharer et al., 2010; Pérez et al., 2013; Tlili et al., 2013; Mefford et al., 2015; van Karnebeek et al., 2016; Al Teneiji et al., 2017; Falsaperla et al., 2018; Jiao et al., 2020), as in our cohort of family 4. This evidence concerns the gene ALDH7A1 and infantile spasms.