Moreover, loss-of-function recessive mutations of KCNJ10 (Kir4.1) have been recently associated with a disease, named EAST syndrome or SeSAME syndrome, consisting of seizures, ataxia, sensorineural deafness, mental retardation, and renal salt-losing tubulopathy (Bockenhauer et al., 2009; Scholl et al., 2009, Table 1). This evidence concerns the gene KCNJ10 and EAST syndrome.