With colleagues at the Institute of Child Health, Eamonn Sheridan, Sally Feather and Angus Dobbie have characterized a new autosomal recessive syndrome of epilepsy, ataxia, deafness, and renal tubulopathy. Their studies show that the condition results from mutation of the potassium channel gene KCNJ10, expressed in the inner ear, brain and kidney. The findings are reported in the New England Journal of Medicine.
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 (2009) Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 360:1960-70. NEJM site