| 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 | ENFL5, KCNT1
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| Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
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| Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM.
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| Nat Genet 44(11):1188-90. doi: 10.1038/ng.2440. Epub 2012 Oct 21.
2012
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| 4 | ENFL5
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| Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.
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| Derry CP, Heron SE, Phillips F, Howell S, MacMahon J, Phillips HA, Duncan JS, Mulley JC, Berkovic SF, Scheffer IE.
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| Epilepsia 49(12):2125-9. doi: 10.1111/j.1528-1167.2008.01652.x. Epub 2008 May 9.
2008
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