Furthermore, emerging evidence shows that loss-of-function mutations in the human KCNJ10 gene encoding Kir4.1 cause the epileptic disorders called “EAST” (Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy) or “SeSAME” (Seizures, Sensorineural deafness, Ataxia, Mental retardation, and Electrolyte imbalance) syndrome (Bockenhauer et al., 2009; Scholl et al., 2009; Reichold et al., 2010). The gene discussed is KCNJ10; the disease is Abnormality of metabolism/homeostasis.