Aside from these mutations affecting KCC2, recent studies have also identified multiple SLC12A2 mutations in patients affected by various neurodevelopmental disorders (Table 1; Delpire et al., 2016; Marchese et al., 2016; Anazi et al., 2017; Macnamara et al., 2019; McNeill et al., 2020; Stödberg et al., 2020). The gene discussed is SLC12A2; the disease is neurodevelopmental disorder.