“…This study provided the initial evidence of the deleterious effect of variants p.Ser347Arg, p.Thr374Ile, and p.Gly379Arg on KCNB1 function. Following the initial identification of KCNB1 variants (Torkamani et al, ), 29 new KCNB1 variants have been reported in 37 patients detected through next‐generation high‐throughput sequencing in cohorts of individuals with developmental delay and/or DEE (Allen et al, ; Fitzgerald et al, ; Saitsu et al, ; Soden et al, ; Srivastava et al, ; Thiffault et al, ; Torkamani et al, ; Calhoun, Vanoye, Kok, George, & Kearney, ; de Kovel et al, ; Latypova et al, ; Marini et al, ; Miao, Peng, Chen, Gai, & Yin, , 2018; Parrini et al, ; Samanta, ; Zhu et al, ). The majority of these patients had epilepsy, intellectual disability, and behavioral problems (MIM# 616056; epileptic encephalopathy, early infantile, 26).…”