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; Anikster, Yair; Gahl, William A.
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]
|Collections||ANU Research Publications|
|Source:||New England Journal of Medicine|
|01_Bockenhauer_Epilepsy,_ataxia,_2009.pdf||1.19 MB||Adobe PDF||Request a copy|
Items in Open Research are protected by copyright, with all rights reserved, unless otherwise indicated.