Identity
HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
DEE14,EIEE14,ENFL5,KCa4.1,SLACK,Slo2.2,bA100C15.2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57582
MIM: 608167
HGNC: 18865
Ensembl: ENSG00000107147
Variants:
dbSNP: 57582
ClinVar: 57582
TCGA: ENSG00000107147
COSMIC: KCNT1
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38289338 | 2024 | Coupling of Slack and Na(V)1.6 sensitizes Slack to quinidine blockade and guides anti-seizure strategy development. | 0 |
| 38289338 | 2024 | Coupling of Slack and Na(V)1.6 sensitizes Slack to quinidine blockade and guides anti-seizure strategy development. | 0 |
| 37177976 | 2023 | Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties. | 5 |
| 37177976 | 2023 | Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties. | 5 |
| 34537872 | 2022 | The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy. | 4 |
| 36499459 | 2022 | Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity. | 2 |
| 34537872 | 2022 | The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy. | 4 |
| 36499459 | 2022 | Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity. | 2 |
| 33650128 | 2021 | Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation. | 0 |
| 34114611 | 2021 | KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. | 24 |
| 33650128 | 2021 | Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation. | 0 |
| 34114611 | 2021 | KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. | 24 |
| 30847371 | 2019 | Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations. | 15 |
| 31350261 | 2019 | An Epilepsy-Associated KCNT1 Mutation Enhances Excitability of Human iPSC-Derived Neurons by Increasing Slack K(Na) Currents. | 43 |
| 31532509 | 2019 | KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP. | 11 |
Citation
Dessen P
KCNT1 (potassium sodium-activated channel subfamily T member 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56032/kcnt1-(potassium-sodium-activated-channel-subfamily-t-member-1)
