Previous findings from clinical and functional investigations of KCNJ10 mutations (p.R18Q and p.V84M) in two unrelated families2 indicated that seizures, intellectual disability, and ASD (namely, the autism-epilepsy phenotype, AEP) were the main clinical presentation of patients with gain-of-function (GoF) mutations of the Kir4.1 channel. This evidence concerns the gene KCNJ10 and epilepsy.