SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ELECTROLYTE IMBALANCE; SESAMES

Literature (3)

Literature for OMIM 612780: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND ELECTROLYTE IMBALANCE; SESAMES

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Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., Bockenhauer D,Stanescu HC,Bandulik S,Zdebik AA,Reichold M,Tobin J,Lieberer E,Landoure G,Arora R,Sirimanna T,Thompson D,Cross JH,Al Masri O,Tullus K,Yeung S,Anikster Y,Hubank M,Dillon MJ,Arcos-Burgos M,Knepper MA,Dobbie A,Gahl WA,Warth R,Sheridan E,Kleta R,Sterner C,Klootwijk E,van't Hoff W,Feather S,Heitzmann D, N Engl J Med. May 7, 2009; 360(19):1533-4406.
Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome., Williams DM,Lopes CM,Rosenhouse-Dantsker A,Connelly HL,Matavel A,O-Uchi J,McBeath E,Gray DA, J Am Soc Nephrol. December 1, 2010; 21(12):1533-3450.
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome., Mahmood F,Mozere M,Zdebik AA,Tobin J,Beales PL,Kleta R,Bockenhauer D,Stanescu HC,Russell C, Dis Model Mech. May 1, 2013; 6(3):1754-8411.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., Bockenhauer D,Stanescu HC,Bandulik S,Zdebik AA,Reichold M,Tobin J,Lieberer E,Landoure G,Arora R,Sirimanna T,Thompson D,Cross JH,Al Masri O,Tullus K,Yeung S,Anikster Y,Hubank M,Dillon MJ,Arcos-Burgos M,Knepper MA,Dobbie A,Gahl WA,Warth R,Sheridan E,Kleta R,Sterner C,Klootwijk E,van't Hoff W,Feather S,Heitzmann D, N Engl J Med. May 7, 2009; 360(19):1533-4406.

Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome., Williams DM,Lopes CM,Rosenhouse-Dantsker A,Connelly HL,Matavel A,O-Uchi J,McBeath E,Gray DA, J Am Soc Nephrol. December 1, 2010; 21(12):1533-3450.

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome., Mahmood F,Mozere M,Zdebik AA,Tobin J,Beales PL,Kleta R,Bockenhauer D,Stanescu HC,Russell C, Dis Model Mech. May 1, 2013; 6(3):1754-8411.