| 1 | EIEE14, ENFL5, KCNT1
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| Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels.
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| Kim GE, Kronengold J, Barcia G, Quraishi IH, Martin HC, Blair E, Taylor JC, Dulac O, Colleaux L, Nabbout R, Kaczmarek LK.
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| Cell Rep 9(5):1661-72. doi: 10.1016/j.celrep.2014.11.015. Epub 2014 Dec 4.
2014
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| 2 | EIEE14, ENFL5
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| KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
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| Milligan CJ, Li M, Gazina EV, Heron SE, Nair U, Trager C, Reid CA, Venkat A, Younkin DP, Dlugos DJ, Petrovski S, Goldstein DB, Dibbens LM, Scheffer IE, Berkovic SF, Petrou S.
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| Ann Neurol 75(4):581-90. doi: 10.1002/ana.24128. Epub 2014 Apr 14.
2014
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| 3 | EIEE14, KCNT1
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| Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.
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| Vanderver A, Simons C, Schmidt JL, Pearl PL, Bloom M, Lavenstein B, Miller D, Grimmond SM, Taft RJ.
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| Pediatr Neurol 50(1):112-4. doi: 10.1016/j.pediatrneurol.2013.06.024. Epub 2013 Oct 10.
2014
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| 4 | EIEE14, KCNT1
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| A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.
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| Ishii A, Shioda M, Okumura A, Kidokoro H, Sakauchi M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamoto T.
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| Gene 531(2):467-71. doi: 10.1016/j.gene.2013.08.096. Epub 2013 Sep 10.
2013
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| 5 | EIEE14, KCNT1
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| De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
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| Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R.
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| Nat Genet 44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21.
2012
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