Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
Bockenhauer D; Feather S; Stanescu HC; Bandulik S; Zdebik AA; Reichold M; Tobin J; Lieberer E; Sterner C; Landoure G; Arora R; Sirimanna T; Thompson D; Cross JH; van't Hoff W; Al Masri O; Tullus K; Yeung S; Anikster Y; Klootwijk E; Hubank M; Dillon MJ; Heitzmann D; Arcos-Burgos M; Knepper MA; Dobbie A; Gahl WA; Warth R; Sheridan E; Kleta R; The New England Journal Of Medicine, 2009, vol. 360, issue 19, p 1960, ISSN 15334406. ISBN 15334406.

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