Back

Equivalent Gain-of-Function Variants in KCNK3 and KCNK9 and their Contribution to Distinct TASK K2P Channelopathies

2025-12-18 genetic and genomic medicine Title + abstract only
View on medRxiv
Show abstract

Gain-of-function (GoF) missense variants in the Two-Pore Domain (K2P) K+ channel TASK-1 (KCNK3) result in Developmental Delay with Sleep Apnea (DDSA), a neurodevelopmental channelopathy, whilst loss-of-function (LoF) variants cause a hypertensive disorder. However, for the related TASK-3 channel (KCNK9), both LoF and GoF variants underlie a distinct neurodevelopmental disorder, KCNK9 Imprinting Syndrome (KIS). The relationship between genotype and phenotype in these disorders is further complica...

Predicted journal destinations

1
The American Journal of Human Genetics
77 training papers
Top 0.5% 16.9%
2
Genetics in Medicine
57 training papers
Top 1% 11.3%
3
Nature Communications
483 training papers
Top 9% 10.5%
4
Scientific Reports
701 training papers
Top 43% 6.1%
5
Nature Genetics
72 training papers
Top 2% 6.1%
6
Human Genetics and Genomics Advances
39 training papers
Top 0.3% 4.8%
7
Genome Medicine
56 training papers
Top 4% 3.7%
8
Brain
69 training papers
Top 5% 2.7%
9
Circulation: Genomic and Precision Medicine
30 training papers
Top 4% 2.7%
10
European Journal of Human Genetics
25 training papers
Top 2% 1.8%
11
PLOS Genetics
39 training papers
Top 3% 1.8%
12
Nature
58 training papers
Top 2% 1.8%
13
Cell Genomics
34 training papers
Top 3% 1.8%
14
Human Molecular Genetics
28 training papers
Top 4% 1.5%
15
Frontiers in Genetics
32 training papers
Top 4% 1.5%
16
Translational Psychiatry
94 training papers
Top 8% 1.3%
17
npj Genomic Medicine
18 training papers
Top 2% 1.3%
18
Journal of Medical Genetics
22 training papers
Top 2% 1.3%
19
PLOS ONE
1737 training papers
Top 97% 1.1%
20
Genes
21 training papers
Top 4% 0.9%
21
eLife
262 training papers
Top 47% 0.9%
22
Proceedings of the National Academy of Sciences
100 training papers
Top 17% 0.9%
23
International Journal of Molecular Sciences
39 training papers
Top 5% 0.9%
24
Movement Disorders
49 training papers
Top 8% 0.7%
25
Molecular Psychiatry
84 training papers
Top 10% 0.7%
26
Bioinformatics
24 training papers
Top 4% 0.7%
27
Circulation
37 training papers
Top 6% 0.7%
28
Nature Medicine
88 training papers
Top 21% 0.7%
29
eBioMedicine
82 training papers
Top 14% 0.7%