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
; 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
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 ...
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