Recessive pathogenic variants in the KCNJ10  gene have been described in homozygous and compound heterozygous state in patients with a complex syndrome comprising seizures, sensorineural deafness, ataxia, impaired intellectual development and electrolyte imbalance (SESAME or EAST syndrome) (Scholl et al. 2009). The gene discussed is KCNJ10; the disease is cerebellar ataxia.