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KCNK9 Imprinting Syndrome.
2017 Mar 23. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2017 Mar 23. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 28333430
Free Books & Documents.
Review.
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9.
Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, Mazor G, Finer G, Khateeb S, Zilberberg N, Birk OS.
Barel O, et al.
Am J Hum Genet. 2008 Aug;83(2):193-9. doi: 10.1016/j.ajhg.2008.07.010.
Am J Hum Genet. 2008.
PMID: 18678320
Free PMC article.
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Dysfunction of KCNK potassium channels impairs neuronal migration in the developing mouse cerebral cortex.
Bando Y, Hirano T, Tagawa Y.
Bando Y, et al.
Cereb Cortex. 2014 Apr;24(4):1017-29. doi: 10.1093/cercor/bhs387. Epub 2012 Dec 12.
Cereb Cortex. 2014.
PMID: 23236211
Free article.
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KCNK9 imprinting syndrome-further delineation of a possible treatable disorder.
Graham JM Jr, Zadeh N, Kelley M, Tan ES, Liew W, Tan V, Deardorff MA, Wilson GN, Sagi-Dain L, Shalev SA.
Graham JM Jr, et al.
Am J Med Genet A. 2016 Oct;170(10):2632-7. doi: 10.1002/ajmg.a.37740. Epub 2016 May 6.
Am J Med Genet A. 2016.
PMID: 27151206
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Terbinafine is a novel and selective activator of the two-pore domain potassium channel TASK3.
Wright PD, Veale EL, McCoull D, Tickle DC, Large JM, Ococks E, Gothard G, Kettleborough C, Mathie A, Jerman J.
Wright PD, et al.
Biochem Biophys Res Commun. 2017 Nov 4;493(1):444-450. doi: 10.1016/j.bbrc.2017.09.002. Epub 2017 Sep 5.
Biochem Biophys Res Commun. 2017.
PMID: 28882594
Free article.
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Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.
Šedivá M, Laššuthová P, Zámečník J, Sedláčková L, Seeman P, Haberlová J.
Šedivá M, et al.
Eur J Med Genet. 2020 Jan;63(1):103619. doi: 10.1016/j.ejmg.2019.01.009. Epub 2019 Jan 25.
Eur J Med Genet. 2020.
PMID: 30690205
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