Loss-of-function (LoF) defects of Kir4.1 (KCNJ10) have been linked to the autosomal recessive SeSAME/EAST Syndrome (MIM 612780)29, 30, a condition encompassing clinical features such as sensorineural deafness, renal salt-losing tubulopathy, early onset seizures, ataxia, and severe intellectual disability. The gene discussed is KCNJ10; the disease is cerebellar ataxia.