Among them, mutations in the KCNJ10 gene encoding the Kir4.1 subunit can cause EAST/SeSAME syndrome (epilepsy, ataxia, sensorineural deafness, tubulopathy/seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance), which manifests as epilepsy, ataxia, sensorineural deafness, hypokalemia, and metabolic alkalosis (Bockenhauer et al., 2009; Reichold et al., 2010). Here, KCNJ10 is linked to cerebellar ataxia.