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Journal Abstract Search

268 related items for PubMed ID: 21458570

  • 1.
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  • 2. Evidence that compromised K+ spatial buffering contributes to the epileptogenic effect of mutations in the human Kir4.1 gene (KCNJ10).
    Haj-Yasein NN, Jensen V, Vindedal GF, Gundersen GA, Klungland A, Ottersen OP, Hvalby O, Nagelhus EA.
    Glia; 2011 Nov; 59(11):1635-42. PubMed ID: 21748805
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  • 4. Variants of the genes encoding AQP4 and Kir4.1 are associated with subgroups of patients with temporal lobe epilepsy.
    Heuser K, Nagelhus EA, Taubøll E, Indahl U, Berg PR, Lien S, Nakken S, Gjerstad L, Ottersen OP.
    Epilepsy Res; 2010 Jan; 88(1):55-64. PubMed ID: 19864112
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  • 5. Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class.
    Peters SU, Horowitz L, Barbieri-Welge R, Taylor JL, Hundley RJ.
    J Child Psychol Psychiatry; 2012 Feb; 53(2):152-9. PubMed ID: 21831244
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  • 6. Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.
    Sicca F, Ambrosini E, Marchese M, Sforna L, Servettini I, Valvo G, Brignone MS, Lanciotti A, Moro F, Grottesi A, Catacuzzeno L, Baldini S, Hasan S, D'Adamo MC, Franciolini F, Molinari P, Santorelli FM, Pessia M.
    Sci Rep; 2016 Sep 28; 6():34325. PubMed ID: 27677466
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  • 8. Lack of the Kir4.1 channel subunit abolishes K+ buffering properties of astrocytes in the ventral respiratory group: impact on extracellular K+ regulation.
    Neusch C, Papadopoulos N, Müller M, Maletzki I, Winter SM, Hirrlinger J, Handschuh M, Bähr M, Richter DW, Kirchhoff F, Hülsmann S.
    J Neurophysiol; 2006 Mar 28; 95(3):1843-52. PubMed ID: 16306174
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  • 9. Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.
    Cucchiara F, Frumento P, Banfi T, Sesso G, Di Galante M, D'Ascanio P, Valvo G, Sicca F, Faraguna U.
    Sleep; 2020 Apr 15; 43(4):. PubMed ID: 31722434
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  • 10. Association study between inwardly rectifying potassium channels 2.1 and 4.1 and autism spectrum disorders.
    Sun C, Zou M, Li L, Li D, Ma Y, Xia W, Wu L, Ren H.
    Life Sci; 2018 Nov 15; 213():183-189. PubMed ID: 30304693
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  • 11. Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.
    Nadella RK, Chellappa A, Subramaniam AG, More RP, Shetty S, Prakash S, Ratna N, Vandana VP, Purushottam M, Saini J, Viswanath B, Bindu PS, Nagappa M, Mehta B, Jain S, Kannan R.
    Hum Genomics; 2019 Oct 22; 13(1):53. PubMed ID: 31640787
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  • 12. Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.
    Shang L, Lucchese CJ, Haider S, Tucker SJ.
    Brain Res Mol Brain Res; 2005 Sep 13; 139(1):178-83. PubMed ID: 15936844
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  • 13. Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
    Morin M, Forst AL, Pérez-Torre P, Jiménez-Escrig A, Barca-Tierno V, García-Galloway E, Warth R, Lopez-Sendón Moreno JL, Moreno-Pelayo MA.
    Neurogenetics; 2020 Apr 13; 21(2):135-143. PubMed ID: 32062759
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  • 14. 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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  • 15. DNA methylation: A mechanism for sustained alteration of KIR4.1 expression following central nervous system insult.
    Boni JL, Kahanovitch U, Nwaobi SE, Floyd CL, Olsen ML.
    Glia; 2020 Jul 01; 68(7):1495-1512. PubMed ID: 32068308
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  • 16. 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 Jul 01; 123(3-4):7-14. PubMed ID: 24193250
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  • 17. Inwardly Rectifying Potassium Channel Kir4.1 as a Novel Modulator of BDNF Expression in Astrocytes.
    Ohno Y, Kinboshi M, Shimizu S.
    Int J Mol Sci; 2018 Oct 24; 19(11):. PubMed ID: 30356026
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  • 18. Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene.
    Phani NM, Acharya S, Xavy S, Bhaskaranand N, Bhat MK, Jain A, Rai PS, Satyamoorthy K.
    Gene; 2014 Feb 25; 536(2):247-53. PubMed ID: 24378235
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  • 19. Contribution of KCNJ10 gene polymorphisms in childhood epilepsy.
    Dai AI, Akcali A, Koska S, Oztuzcu S, Cengiz B, Demiryürek AT.
    J Child Neurol; 2015 Mar 25; 30(3):296-300. PubMed ID: 25008907
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  • 20. 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 25; 265(6):1419-1425. PubMed ID: 29666984
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