Front Physiol 2022 15;13:852674. Epub 2022 Mar 15.
Neuroscience, Physiology and Pharmacology, University College London, London, United Kingdom.
In 2009, two groups independently linked human mutations in the inwardly rectifying K channel Kir4.1 (gene name ) to a syndrome affecting the central nervous system (CNS), hearing, and renal tubular salt reabsorption. The autosomal recessive syndrome has been named EAST (epilepsy, ataxia, sensorineural deafness, and renal tubulopathy) or SeSAME syndrome (seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance), accordingly. Read More