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Items: 1 to 20 of 153

1.

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

Sicca F, Imbrici P, D'Adamo MC, Moro F, Bonatti F, Brovedani P, Grottesi A, Guerrini R, Masi G, Santorelli FM, Pessia M.

Neurobiol Dis. 2011 Jul;43(1):239-47. doi: 10.1016/j.nbd.2011.03.016.

PMID:
21458570
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. doi: 10.1002/glia.21205.

PMID:
21748805
3.

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. doi: 10.1038/srep34325.

4.

KCNJ10 mutations disrupt function in patients with EAST syndrome.

Freudenthal B, Kulaveerasingam D, Lingappa L, Shah MA, Brueton L, Wassmer E, Ognjanovic M, Dorison N, Reichold M, Bockenhauer D, Kleta R, Zdebik AA.

Nephron Physiol. 2011;119(3):p40-8. doi: 10.1159/000330250.

PMID:
21849804
5.

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. doi: 10.1016/j.eplepsyres.2009.09.023.

PMID:
19864112
6.

[EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear].

Chen J, Zhao H.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015 Jul;29(14):1318-22. Review. Chinese.

PMID:
26672256
7.

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;27(11):2081-90. doi: 10.1007/s00467-012-2219-4.

PMID:
22907601
8.

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. doi: 10.1111/j.1469-7610.2011.02455.x.

PMID:
21831244
9.

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;95(3):1843-52. Erratum in: J Neurophysiol. 2006 Aug;96(2):965.

10.

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.

Bandulik S, Schmidt K, Bockenhauer D, Zdebik AA, Humberg E, Kleta R, Warth R, Reichold M.

Pflugers Arch. 2011 Apr;461(4):423-35. doi: 10.1007/s00424-010-0915-0. Review.

PMID:
21221631
11.

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.

PMID:
15936844
12.

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;123(3-4):7-14. doi: 10.1159/000356353.

13.
14.

The role of an inwardly rectifying K(+) channel (Kir4.1) in the inner ear and hearing loss.

Chen J, Zhao HB.

Neuroscience. 2014 Apr 18;265:137-46. doi: 10.1016/j.neuroscience.2014.01.036. Review.

15.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C.

BMC Med Genet. 2011 Aug 9;12:106. doi: 10.1186/1471-2350-12-106.

16.

Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10).

Sala-Rabanal M, Kucheryavykh LY, Skatchkov SN, Eaton MJ, Nichols CG.

J Biol Chem. 2010 Nov 12;285(46):36040-8. doi: 10.1074/jbc.M110.163170.

17.

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 7;106(14):5842-7. doi: 10.1073/pnas.0901749106.

18.

Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.

Tanemoto M, Abe T, Uchida S, Kawahara K.

FEBS Lett. 2014 Mar 18;588(6):899-905. doi: 10.1016/j.febslet.2014.02.024.

19.

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. doi: 10.1073/pnas.1003072107.

20.

Variable loss of Kir4.1 channel function in SeSAME syndrome mutations.

Tang X, Hang D, Sand A, Kofuji P.

Biochem Biophys Res Commun. 2010 Sep 3;399(4):537-41. doi: 10.1016/j.bbrc.2010.07.105.

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