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EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies

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Lo, Jacky ; Forst, Anna-Lena ; Warth, Richard ; Zdebik, Anselm A.
License: Creative Commons Attribution 4.0
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Date of publication of this fulltext: 22 Apr 2022 17:57


In 2009, two groups independently linked human mutations in the inwardly rectifying K+ channel Kir4.1 (gene name KCNJ10) 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, ...


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