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Article

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.

Pflugers Archiv : European journal of physiology - 1 Apr 2011

Bandulik Sascha, Schmidt Katharina, Bockenhauer Detlef, Zdebik Anselm A, Humberg Evelyn, Kleta Robert, Warth Richard, Reichold Markus

Abstract excerpt

Mutations in the K+ channel gene KCNJ10 (Kir4.1) cause the autosomal recessive EAST syndrome which is characterized by epilepsy, ataxia, sensorineural deafness, and a salt-wasting tubulopathy. The renal salt-wasting pathology of EAST syndrome is caused by transport defects in the distal convoluted tubule where KCNJ10 plays a pivotal role as a basolateral K+ channel. This review on EAST syndrome outlines the...

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Source

Identifiers

PMID: 21221631
DOI: 10.1007/s00424-010-0915-0

Genes

KCNJ10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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