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

URN to cite this document:
urn:nbn:de:bvb:355-epub-520188
DOI to cite this document:
10.5283/epub.52018
Lo, Jacky ; Forst, Anna-Lena ; Warth, Richard ; Zdebik, Anselm A.
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Date of publication of this fulltext: 22 Apr 2022 17:57


Abstract

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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