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Volume 361:630-631 August 6, 2009 Number 6
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The EAST Syndrome and KCNJ10 Mutations

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by Bleich, M.
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by Bockenhauer, D.
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To the Editor: Bockenhauer et al. (May 7 issue)1 report on a unique constellation of multiorgan signs and symptoms — epilepsy, ataxia, sensorineural deafness, and a renal salt-losing tubulopathy, which they term the EAST syndrome — associated with the homozygous missense mutations of the KCNJ10 gene encoding a potassium channel.

In the Discussion section, the authors propose that the seizures in the patients in their study were due to an extracellular accumulation of potassium in the absence of fully functional KCNJ10; this accumulation decreased the membrane potential and facilitated further excitations. This explanation is reasonable. However, another possibility — demyelinating . . . [Full Text of this Article]



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