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| 1 | Camila Xu | + 599 word(s) | 599 | 2020-12-15 07:28:39 |
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Xu, C. KCNK9 Imprinting Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4425 (accessed on 27 September 2026).
Xu C. KCNK9 Imprinting Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4425. Accessed September 27, 2026.
Xu, Camila. "KCNK9 Imprinting Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4425 (accessed September 27, 2026).
Xu, C. (2020, December 23). KCNK9 Imprinting Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4425
Xu, Camila. "KCNK9 Imprinting Syndrome." Encyclopedia. Web. 23 December, 2020.
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KCNK9 imprinting syndrome is a rare condition characterized by weak muscle tone (hypotonia) from birth.
genetic conditions
References
- Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, Mazor G, Finer G, Khateeb S, Zilberberg N, Birk OS. Maternally inherited Birk Barel mentalretardation dysmorphism syndrome caused by a mutation in the genomicallyimprinted potassium channel KCNK9. Am J Hum Genet. 2008 Aug;83(2):193-9. doi:10.1016/j.ajhg.2008.07.010.
- Enyedi P, Czirják G. Molecular background of leak K+ currents: two-pore domainpotassium channels. Physiol Rev. 2010 Apr;90(2):559-605. doi:10.1152/physrev.00029.2009. Review.
- Graham JM Jr, Zadeh N, Kelley M, Tan ES, Liew W, Tan V, Deardorff MA, WilsonGN, Sagi-Dain L, Shalev SA. KCNK9 imprinting syndrome-further delineation of apossible treatable disorder. Am J Med Genet A. 2016 Oct;170(10):2632-7. doi:10.1002/ajmg.a.37740.
- Veale EL, Hassan M, Walsh Y, Al-Moubarak E, Mathie A. Recovery of currentthrough mutated TASK3 potassium channels underlying Birk Barel syndrome. MolPharmacol. 2014 Mar;85(3):397-407. doi: 10.1124/mol.113.090530.
- Zadeh N, Graham JM Jr. KCNK9 Imprinting Syndrome. 2017 Mar 23. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK425128/
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