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Journal Abstract Search

193 related items for PubMed ID: 32062759

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  • 2. [EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear].
    Chen J, Zhao H.
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2015 Jul; 29(14):1318-22. PubMed ID: 26672256
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  • 6. KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.
    Reichold M, Zdebik AA, Lieberer E, Rapedius M, Schmidt K, Bandulik S, Sterner C, Tegtmeier I, Penton D, Baukrowitz T, Hulton SA, Witzgall R, Ben-Zeev B, Howie AJ, Kleta R, Bockenhauer D, Warth R.
    Proc Natl Acad Sci U S A; 2010 Aug 10; 107(32):14490-5. PubMed ID: 20651251
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  • 11. Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
    Hasan S, Balobaid A, Grottesi A, Dabbagh O, Cenciarini M, Rawashdeh R, Al-Sagheir A, Bove C, Macchioni L, Pessia M, Al-Owain M, D'Adamo MC.
    J Neurophysiol; 2017 Oct 01; 118(4):2402-2411. PubMed ID: 28747464
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  • 13. Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.
    Nicita F, Tasca G, Nardella M, Bellacchio E, Camponeschi I, Vasco G, Schirinzi T, Bertini E, Zanni G.
    Cerebellum; 2018 Aug 01; 17(4):499-503. PubMed ID: 29476442
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  • 14. Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.
    Mahmood F, Mozere M, Zdebik AA, Stanescu HC, Tobin J, Beales PL, Kleta R, Bockenhauer D, Russell C.
    Dis Model Mech; 2013 May 01; 6(3):652-60. PubMed ID: 23471908
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  • 15. EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.
    Lo J, Forst AL, Warth R, Zdebik AA.
    Front Physiol; 2022 May 01; 13():852674. PubMed ID: 35370765
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  • 17. Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome.
    Paulais M, Bloch-Faure M, Picard N, Jacques T, Ramakrishnan SK, Keck M, Sohet F, Eladari D, Houillier P, Lourdel S, Teulon J, Tucker SJ.
    Proc Natl Acad Sci U S A; 2011 Jun 21; 108(25):10361-6. PubMed ID: 21633011
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  • 18. Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.
    Severino M, Lualdi S, Fiorillo C, Striano P, De Toni T, Peluso S, De Michele G, Rossi A, Filocamo M, Bruno C.
    J Neurol; 2018 Jun 21; 265(6):1419-1425. PubMed ID: 29666984
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  • 19. 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; 2010 Dec 21; 21(12):2117-29. PubMed ID: 21088294
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  • 20. Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.
    Mir A, Chaudhary M, Alkhaldi H, Alhazmi R, Albaradie R, Housawi Y.
    Brain Dev; 2019 Sep 21; 41(8):706-715. PubMed ID: 30952461
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