Mutations in the Kir4.1 gene (KCNJ10) cause the autosomal recessive disorder SeSAME/EAST Syndrome (seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance/epilepsy, ataxia, sensorineural deafness and tubulopathy) in human patients [25]. This evidence concerns the gene KCNJ10 and cerebellar ataxia.