Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

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 reces...

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Main Authors: 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, Hoff, William van’t, Masri, Omar Al, 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
Format: Artigo
Jezik:Inglês
Izdano: 2009
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3398803/
https://ncbi.nlm.nih.gov/pubmed/19420365
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa0810276
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