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Journal Abstract Search

149 related items for PubMed ID: 29191078

  • 1. Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities.
    Al Dhaibani MA, El-Hattab AW, Holroyd KB, Orthmann-Murphy J, Larson VA, Siddiqui KA, Szolics M, Schiess N.
    J Neurogenet; 2018 Mar; 32(1):1-5. PubMed ID: 29191078
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  • 5. 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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  • 6. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
    Scholl UI, Choi M, Liu T, Ramaekers VT, Häusler MG, Grimmer J, Tobe SW, Farhi A, Nelson-Williams C, Lifton RP.
    Proc Natl Acad Sci U S A; 2009 Apr 07; 106(14):5842-7. PubMed ID: 19289823
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  • 7. EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
    Celmina M, Micule I, Inashkina I, Audere M, Kuske S, Pereca J, Stavusis J, Pelnena D, Strautmanis J.
    Clin Genet; 2019 Jan 07; 95(1):63-78. PubMed ID: 29722015
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  • 12. The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
    Van Poucke M, Stee K, Bhatti SF, Vanhaesebrouck A, Bosseler L, Peelman LJ, Van Ham L.
    Eur J Hum Genet; 2017 Feb 07; 25(2):222-226. PubMed ID: 27966545
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  • 14. SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.
    Scholl UI, Dave HB, Lu M, Farhi A, Nelson-Williams C, Listman JA, Lifton RP.
    Pediatr Nephrol; 2012 Nov 07; 27(11):2081-2090. PubMed ID: 22907601
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  • 15. The EAST syndrome and KCNJ10 mutations.
    Shi M, Zhao G.
    N Engl J Med; 2009 Aug 06; 361(6):630; author reply 630-1. PubMed ID: 19657131
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  • 16. 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.
    N Engl J Med; 2009 May 07; 360(19):1960-70. PubMed ID: 19420365
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  • 17. KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
    Parrock S, Hussain S, Issler N, Differ AM, Lench N, Guarino S, Oosterveld MJ, Keijzer-Veen M, Brilstra E, van Wieringen H, Konijnenberg AY, Amin-Rasip S, Dumitriu S, Klootwijk E, Knoers N, Bockenhauer D, Kleta R, Zdebik AA.
    Nephron Physiol; 2013 May 07; 123(3-4):7-14. PubMed ID: 24193250
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  • 20. Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.
    Balck A, Hanssen H, Hellenbroich Y, Lohmann K, Münchau A.
    J Neurol; 2017 Jul 07; 264(7):1520-1522. PubMed ID: 28455667
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