Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations | Zendy

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

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Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations

Author(s) -

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 ArcosBurgos,

Mark A. Knepper,

Angus Dobbie,

William A. Gahl,

Richard Warth,

Eamonn Sheridan,

Robert Kleta

Publication year - 2009

Publication title -

new england journal of medicine

Language(s) - Uncategorized

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa0810276

Subject(s) - tubulopathy , medicine , genetics , ataxia , sensorineural hearing loss , missense mutation , epilepsy , cerebellar ataxia , phenocopy , endocrinology , mutation , gene , hearing loss , kidney disease , biology , audiology , psychiatry , mutant

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).

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