A previous study reported that compound variants in KPNA7 were associated with infantile spasms and cerebellar malformation in a single family with 2 patients, but considering the very low expression level of KPNA7 in the brain, the causal relationship between KPNA7 variants and clinical presentation could not be definitively established (37, 38). Here, KPNA7 is linked to infantile spasms.