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

Bockenhauer, Detlef; Feather, Sally; Stanescu, Horia C.; Bandulik, Sascha; Zdebik, Anselm A.; Reichold, Markus; Tobin, Jonathan; Lieberer, Evelyn; Sterner, Christina; Landoure, Guida; Arcos-Burgos, Mauricio (Oscar); Anikster, Yair; Gahl, William A

Description

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 tubulopathy). Methods: Whole-genome linkage analysis was performed in the four affected...[Show more]

CollectionsANU Research Publications
Date published: 2009
Type: Journal article
URI: http://hdl.handle.net/1885/79909
Source: New England Journal of Medicine
DOI: 10.1056/NEJMoa0810276

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