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

2009; Massachusetts Medical Society; Volume: 360; Issue: 19 Linguagem: Inglês

10.1056/nejmoa0810276

1533-4406

Detlef Böckenhauer, Sally Feather, Horia Stanescu, Sascha Bandulik, Anselm A. Zdebik, Markus Reichold, Jonathan L. Tobin, Evelyn Lieberer, Christina Sterner, Guida Landouré, Ruchi Arora, Tony Sirimanna, Dorothy Thompson, J. Helen Cross, William van’t Hoff, Omar Masri, Kjell Tullus, Stella Yeung, Yair Anikster, Enriko Klootwijk, Michael Hubank, Michael J. Dillon, Dirk Heitzmann, Mauricio Arcos‐Burgos, Mark A. Knepper, Angus Dobbie, William A. Gahl, Richard Warth, Eamonn Sheridan, Robert Kleta,

Neuroscience and Neuropharmacology Research

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).