1 | KCNH1, TMBTS, ZLS1
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| Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
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| Mégarbané A, Al-Ali R, Choucair N, Lek M, Wang E, Ladjimi M, Rose CM, Hobeika R, Macary Y, Temanni R, Jithesh PV, Chouchane A, Sastry KS, Thomas R, Tomei S, Liu W, Marincola FM, MacArthur D, Chouchane L.
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| BMC Med Genet 17(1):42. doi: 10.1186/s12881-016-0304-4.
2016
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2 | KCNH1, TMBTS
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| Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
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| Simons C, Rash LD, Crawford J, Ma L, Cristofori-Armstrong B, Miller D, Ru K, Baillie GJ, Alanay Y, Jacquinet A, Debray FG, Verloes A, Shen J, Yesil G, Guler S, Yuksel A, Cleary JG, Grimmond SM, McGaughran J, King GF, Gabbett MT, Taft RJ.
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| Nat Genet 47(1):73-7. doi: 10.1038/ng.3153. Epub 2014 Nov 24. Erratum in: Nat Genet. 2015 Mar;47(3):304.
2015
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3 | ATP6V1B2, KCNH1, ZLS1, ZLS2
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| Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
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| Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K.
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| Nat Genet 47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27.
2015
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4 | KCNH1, KCNH2, KCNH3, KCNH4, KCNH5, KCNH6, KCNH7, KCNH8
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| The structural mechanism of KCNH-channel regulation by the eag domain.
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| Haitin Y, Carlson AE, Zagotta WN.
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| Nature 501(7467):444-8. doi: 10.1038/nature12487. Epub 2013 Aug 25.
2013
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5 | KCNH1
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| Flavonoid regulation of EAG1 channels.
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| Carlson AE, Brelidze TI, Zagotta WN.
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| J Gen Physiol 141(3):347-58. doi: 10.1085/jgp.201210900.
2013
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6 | KCNH1
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| Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice.
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| Ufartes R, Schneider T, Mortensen LS, de Juan Romero C, Hentrich K, Knoetgen H, Beilinson V, Moebius W, Tarabykin V, Alves F, Pardo LA, Rawlins JN, Stuehmer W.
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| Hum Mol Genet 22(11):2247-62. doi: 10.1093/hmg/ddt076. Epub 2013 Feb 18.
2013
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7 | KCNH1, KCNH2, KCNH3, KCNH4, KCNH5, KCNH6, KCNH7, KCNH8
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| Structure of the carboxy-terminal region of a KCNH channel.
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| Brelidze TI, Carlson AE, Sankaran B, Zagotta WN.
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| Nature 481(7382):530-3. doi: 10.1038/nature10735.
2012
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8 | CTTN, KCNH1
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| Cortactin controls surface expression of the voltage-gated potassium channel K(V)10.1.
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| Herrmann S, Ninkovic M, Kohl T, Lörinczi É, Pardo LA.
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| J Biol Chem 287(53):44151-63. doi: 10.1074/jbc.M112.372540. Epub 2012 Nov 9.
2012
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9 | CTTN, KCNH1
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| Cortactin controls surface expression of the voltage-gated potassium channel K(V)10.1.
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| Herrmann S, Ninkovic M, Kohl T, Lörinczi É, Pardo LA.
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| J Biol Chem 287(53):44151-63. doi: 10.1074/jbc.M112.372540. Epub 2012 Nov 9.
2012
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10 | KCNH1, RABEP1
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| Physical and functional interaction of KV10.1 with Rabaptin-5 impacts ion channel trafficking.
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| Ninkovic M, Mitkovski M, Kohl T, Stühmer W, Pardo LA.
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| FEBS Lett 586(19):3077-84. doi: 10.1016/j.febslet.2012.07.055. Epub 2012 Jul 25.
2012
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11 | KCNH1
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| Frequent aberrant expression of the human ether ŕ go-go (hEAG1) potassium channel in head and neck cancer: pathobiological mechanisms and clinical implications.
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| Menéndez ST, Villaronga MA, Rodrigo JP, Alvarez-Teijeiro S, García-Carracedo D, Urdinguio RG, Fraga MF, Pardo LA, Viloria CG, Suárez C, García-Pedrero JM.
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| J Mol Med (Berl) 90(10):1173-84. doi: 10.1007/s00109-012-0893-0. Epub 2012 Mar 31.
2012
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12 | KCNH1
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| Human ether-ŕ-go-go gene potassium channels are regulated by EGFR tyrosine kinase.
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| Wu W, Dong MQ, Wu XG, Sun HY, Tse HF, Lau CP, Li GR.
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| Biochim Biophys Acta 1823(2):282-9. doi: 10.1016/j.bbamcr.2011.10.010. Epub 2011 Oct 28.
2012
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13 | KCNH1
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| Functional K(v)10.1 channels localize to the inner nuclear membrane.
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| Chen Y, Sánchez A, Rubio ME, Kohl T, Pardo LA, Stühmer W.
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| PLoS One 6(5):e19257. doi: 10.1371/journal.pone.0019257.
2011
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14 | KCNH1, S100B
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| Current inhibition of human EAG1 potassium channels by the Ca2+ binding protein S100B.
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| Sahoo N, Tröger J, Heinemann SH, Schönherr R.
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| FEBS Lett 584(18):3896-900. Epub 2010 Aug 12.
2010
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15 | KCNH1, KCNH5
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| Eag 1, Eag 2 and Kcnn3 gene brain expression of isolated reared rats.
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| Martin S, Lino-de-Oliveira C, Joca SR, Weffort de Oliveira R, Echeverry MB, Da Silva CA, Pardo L, Stühmer W, Bel ED.
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| Genes Brain Behav 9(8):918-24. doi: 10.1111/j.1601-183X.2010.00632.x.
2010
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16 | KCNH1, KCNH5
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| Roles of surface residues of intracellular domains of heag potassium channels.
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| Stevens L, Ju M, Wray D.
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| Eur Biophys J 38(4):523-32. doi: 10.1007/s00249-009-0402-8. Epub 2009 Jan 27.
2009
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17 | KCNH1, BEST1
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| Eag1 and Bestrophin 1 are up-regulated in fast-growing colonic cancer cells.
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| Spitzner M, Martins JR, Soria RB, Ousingsawat J, Scheidt K, Schreiber R, Kunzelmann K.
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| J Biol Chem 283(12):7421-8. Epub 2008 Jan 25. 2008
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18 | KCNH1, KCNH5
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| Tubulin as a binding partner of the heag2 voltage-gated potassium channel.
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| Bracey K, Ju M, Tian C, Stevens L, Wray D.
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| J Membr Biol 222(3):115-25. doi: 10.1007/s00232-008-9104-x. Epub 2008 May 6.
2008
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19 | KCNH1, KCNH5
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| Differential localization of rat Eag1 and Eag2 K+ channels in hippocampal neurons.
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| Jeng CJ, Chang CC, Tang CY.
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| Neuroreport 16(3):229-33.
2005
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20 | KCNH1, KCNH5
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| Functional distinction of human EAG1 and EAG2 potassium channels.
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| Schonherr R, Gessner G, Lober K, Heinemann SH.
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| FEBS Lett 514(2-3):204-8. 2002
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21 | KCNH1, KCNH5
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| Cloning of a human ether-a-go-go potassium channel expressed in myoblasts at the onset of fusion.
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| Occhiodoro T, Bernheim L, Liu JH, Bijlenga P, Sinnreich M, Bader CR, Fischer-Lougheed J.
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| FEBS Lett 434(1-2):177-82. 1998
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