Ontology highlight
ABSTRACT:
SUBMITTER: Bockenhauer D
PROVIDER: S-EPMC3398803 | biostudies-literature | 2009 May
REPOSITORIES: biostudies-literature
Bockenhauer Detlef D Feather Sally S Stanescu Horia C HC Bandulik Sascha S Zdebik Anselm A AA Reichold Markus M Tobin Jonathan J Lieberer Evelyn E Sterner Christina C Landoure Guida G Arora Ruchi R Sirimanna Tony T Thompson Dorothy D Cross J Helen JH van't Hoff William W Al Masri Omar O Tullus Kjell K Yeung Stella S Anikster Yair Y Klootwijk Enriko E Hubank Mike M Dillon Michael J MJ Heitzmann Dirk D Arcos-Burgos Mauricio M Knepper Mark A MA Dobbie Angus A Gahl William A WA Warth Richard R Sheridan Eamonn E Kleta Robert R
The New England journal of medicine 20090501 19
<h4>Background</h4>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).<h4>Methods</h4>Whole-genome linkage analysis was performed in the four ...[more]