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). This evidence concerns the gene KCNJ10 and Abnormality of metabolism/homeostasis.