Precisely, p.A118T alters the transmembrane domain that is critical to channel operation, whereas p.Y323H modifies the cytoplasmic C-terminal domain, which may compromise intracellular localisation and regulation.<h4>Conclusion</h4>Our findings can expand the spectrum of mutations in the KCNJ10 gene and provide insight into the genotype-phenotype correlation in the SeSAME syndrome. The gene discussed is KCNJ10; the disease is EAST syndrome.