Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

doi:10.1056/NEJMoa0810276

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Article

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.

The New England journal of medicine - 7 May 2009

Bockenhauer Detlef, Feather Sally, Stanescu Horia C, Bandulik Sascha, Zdebik Anselm A, Reichold Markus, Tobin Jonathan, Lieberer Evelyn, Sterner Christina, Landoure Guida, Arora Ruchi, Sirimanna Tony, Thompson Dorothy, Cross J Helen, van't Hoff William, Al Masri Omar, Tullus Kjell, Yeung Stella, Anikster Yair, Klootwijk Enriko, Hubank Mike, Dillon Michael J, Heitzmann Dirk, Arcos-Burgos Mauricio, Knepper Mark A, Dobbie Angus, Gahl William A, Warth Richard, Sheridan Eamonn, Kleta Robert

Abstract excerpt

BACKGROUND: Five children from two consanguineous families presented with epilepsy beginning in infancy and severe ataxia, moderate sensorineural deafness, and a renal salt-losing tubulopathy with normotensive hypokalemic metabolic alkalosis. We investigated the genetic basis of this autosomal recessive disease, which we call the EAST syndrome (the presence of epilepsy, ataxia, sensorineural deafness, and...

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Identifiers

PMID: 19420365
DOI: 10.1056/NEJMoa0810276
PMCID: PMC3398803

Genes

KCNJ10

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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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