KCNT1 Antibody

1. G288S missense mutation, associated with seizures and neurodevelopmental delay resulted in larger whole cell K+ currents compared with wild-type KCNT1 currents. PMID: 28747464
2. Case report describing 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries. PMID: 28987752
3. Stimulation of Slack K(+) channels alters mass at the plasma membrane by triggering dissociation of Phactr-1. PMID: 27545877
4. In the present study, we evaluated two other potential mechanisms for stabilization of Slo2 channels in a closed state: (1) dewetting and collapse of the inner pore (hydrophobic gating) and (2) constriction of the inner pore by tight criss-crossing of the cytoplasmic ends of the S6 alpha-helical segments. PMID: 27682982
5. two de novo, heterozygous KCNT1 mutations were identified in two unrelated malignant migrating partial seizures probands. Both mutations induced a marked leftward shift in homomeric channel activation gating. PMID: 26784557
6. Better understanding of the mechanisms underlying KCNT1-related disease will produce further improvements in treatment of the associated severe seizure disorders. PMID: 26740507
7. The sodium sensitivity of these epilepsy causing mutants probably determines the [Na(+)]i concentration at which these mutants exert their pathological effects. PMID: 26725113
8. We demonstrate that KCNT1 mutations are highly pleiotropic and are associated with phenotypes other than nocturnal frontal lobe epilepsy and malignant migrating focal seizures of infancy. PMID: 26122718
9. This study demonstrate that KCNT1 mutations are strongly associated with early-onset epileptic encephalopathy. PMID: 26140313
10. Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients (20%) PMID: 25339316
11. Nine different mutations of the KCNT1 (Slack) Na(+)-activated K(+) channel give rise to three distinct forms of epilepsy. PMID: 25482562
12. Slick channels, in contrast to the similar Slack channels, are the only high-conductance K+ channels strongly sensitive to small changes in cell volume. PMID: 25347289
13. Genetic studies reveal two novel genes for Ohtahara Syndrome: KCNT1 and PIGQ. PMID: 24463883
14. Novel variations in KCNT1 do not allow prediction of functional phenotypes that might explain, at least in part, the symptoms of malignant migrating partial seizures of infancy (MMPSI). PMID: 24315024
15. This gene-wide tagging study revealed no association between KCNT1 17 common variations and susceptibility of GGEs or AEDs (anti-epileptic drugs) efficacy of genetic generalized epilepsies in Chinese population. PMID: 24279416
16. This study demonistrated that KCNT1 mutations implicated in epilepsy cause a marked increase in function PMID: 24591078
17. this study performed analysis of KCNT1 in two unrelated patients with malignant migrating partial seizures in infancy.Because the G-to-A transition was located at CG dinucleotide sequences as previously reported for KCNT1 mutations, the recurrent occurrence of de novo KCNT1 mutations indicated the hot spots of these locations. PMID: 24029078
18. Mutations in KCNT1 cause a severe form of ADNFLE and sporadic NFLE. PMID: 23086396
19. Our data identify KCNT1 as a major disease-associated gene in Malignant migrating partial seizures of infancy . PMID: 23086397

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HGNC: 18865

OMIM: 608167

KEGG: hsa:57582

STRING: 9606.ENSP00000360822

UniGene: Hs.104950