Biology:KCNT1
From HandWiki
Potassium channel subfamily T, member 1, also known as KCNT1 or SLACK is a human gene that encodes the KCa4.1 protein. KCa4.1 is a member of the calcium-activated potassium channel protein family [1]
Associated Conditions
Mutations in the KCNT1 gene has been shown to be a cause of Ohtahara syndrome and other congenital neurodegenerative diseases. [2]
Therapeutic research
Preclinical and translational studies have investigated antisense oligonucleotide knockdown of KCNT1 as a potential therapy for KCNT1-associated developmental and epileptic encephalopathies, including studies in patient-derived neurons and prenatal human neuronal tissue. [3]
See also
References
- ↑ "Entrez Gene: KCNT1 potassium channel, subfamily T, member 1". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=57582.
- ↑ "Mutations in KCNT1 cause a spectrum of focal epilepsies". Epilepsia 56 (9): e114–20. September 2015. doi:10.1111/epi.13071. PMID 26122718.
- ↑ "RNA targeting therapy for a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death". Nature Communications. April 2026. doi:10.1038/s41467-026-72334-7. PMID 42056090.
Further reading
- "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research 7 (1): 65–73. February 2000. doi:10.1093/dnares/7.1.65. PMID 10718198.
- "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research 16 (1): 55–65. January 2006. doi:10.1101/gr.4039406. PMID 16344560.
- "International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels". Pharmacological Reviews 57 (4): 463–472. December 2005. doi:10.1124/pr.57.4.9. PMID 16382103.
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