For instance, de novo mutations in the human GIRK2 channel (encoded by KCNJ6), such as G154S (p.Gly154Ser), T152Δ (three-nucleotide deletion causes in-frame heterozygosity, resulting in the loss of one amino acid, p. Thr152del) (Masotti et al., 2015), and L171R (p.Leu171Arg) (Horvath et al., 2018), lead to Keppen-Lubinsky syndrome (KPLBS) or a KPLBS-like disorder (Figure 2). Here, KCNJ6 is linked to Keppen-Lubinsky syndrome.