To date, 55 KCNB1 mutations have been reported in patients with encephalopathic epilepsy, infantile epilepsy, autism, and neurodevelopment disorders, and are located throughout Kv2.1 (Figure 1B) (de Kovel et al., 2017; Bar et al., 2020a; Xiong et al., 2022). The gene discussed is KCNB1; the disease is infantile epilepsy syndrome.