Biallelic loss-of-function mutations in Kir4.1 have been linked to a syndrome that is referred to by two different acronyms, i.e., EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) and SeSAME syndrome (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance). This evidence concerns the gene KCNJ10 and cerebellar ataxia.