KCNK9

Publications

Bando Y et al. Dysfunction of KCNK potassium channels impairs neuronal migration in the developing mouse cerebral cortex. Cereb Cortex. 2012;(4):1017-29.  PMID: 23236211.

Barel O et al. Maternally inherited Birk Barel Mental Retardation Dysmorphism Syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Am J Human Genet. 2008;83(2):193-199.  PMID: 18678320.

Bend EG et al. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome. Clin Epigenetics. 2019;11(1): 64.  PMID: 31029150.

Graham JM Jr et al. KCNK9 imprinting syndrome—further delineation of a possible treatable disorder. Am J Med Genet – Part A. 2016;170(10):2632-2637.  PMID: 27151206.

Šedivá M et al. Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome. Eur J Med Genet. 2019.  PMID: 30690205.

Tian F et al. A small molecule compound selectively activates K2P TASK-3 by acting at two distant clusters of residues. Mol Pharm. 2019;96(1):26-35.  PMID: 31015283.

Veale EL et al. Recovery of current through mutated TASK3 potassium channels underlying birk barel syndrome. Mol Pharmacol. 2014;85(3):397-407.  PMID: 24342771.

Wright PD et al. Terbinafine is a novel and selective activator of the two-pore domain potassium channel TASK3. Biochem and Biophys Res Comm 2017;493(1):444-450.  PMID: 28882594.

Zadeh N et al. KCNK9 imprinting syndrome. GeneReviews™. Seattle (WA): University of Washington, Seattle, 2017.  PMID: 28333430.