KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.
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Reichold M, et al. Among authors: rapedius m.
Proc Natl Acad Sci U S A. 2010 Aug 10;107(32):14490-5. doi: 10.1073/pnas.1003072107. Epub 2010 Jul 22.
Proc Natl Acad Sci U S A. 2010.
PMID: 20651251
Free PMC article.