| Tchem | Potassium channel subfamily T member 1 |
Outwardly rectifying potassium channel subunit that may coassemble with other Slo-type channel subunits. Activated by high intracellular sodium or chloride levels. Activated upon stimulation of G-protein coupled receptors, such as CHRM1 and GRIA1. May be regulated by calcium in the absence of sodium ions (in vitro) (By similarity).
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a sodium-activated potassium channel subunit which is thought to function in ion conductance and developmental signaling pathways. Mutations in this gene cause the early-onset epileptic disorders, malignant migrating partial seizures of infancy and autosomal dominant nocturnal frontal lobe epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Comments
| Disease | Target Count |
|---|---|
| Developmental Disabilities | 20 |
| Epilepsies, Partial | 2 |
| Epilepsy, Frontal Lobe | 4 |
| Disease | Target Count |
|---|---|
| Angina pectoris | 21 |
| Bipolar Disorder | 266 |
| Schizophrenia | 503 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Form agnosia | 1 | 5.619 | 2.8 |
| Cortical deafness | 2 | 3.416 | 1.7 |
| Disease | Target Count |
|---|---|
| EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 | 2 |
| Epileptic encephalopathy, early infantile, 14 | 1 |
| PMID | Text | |
|---|---|---|
| 26725113 | The sodium sensitivity of these epilepsy causing mutants probably determines the [Na(+)]i concentration at which these mutants exert their pathological effects. | |
| 26140313 | This study demonstrate that KCNT1 mutations are strongly associated with early-onset epileptic encephalopathy. | |
| 26122718 | 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. | |
| 25482562 | Nine different mutations of the KCNT1 (Slack) Na(+)-activated K(+) channel give rise to three distinct forms of epilepsy. | |
| 25347289 | Slick channels, in contrast to the similar Slack channels, are the only high-conductance K+ channels strongly sensitive to small changes in cell volume. | |
| 25339316 | Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients (20%) | |
| 24591078 | This study demonistrated that KCNT1 mutations implicated in epilepsy cause a marked increase in function | |
| 24463883 | Genetic studies reveal two novel genes for Ohtahara Syndrome: KCNT1 and PIGQ. | |
| 24315024 | 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). | |
| 24279416 | 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. | |
| 24029078 | 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. | |
| 23086397 | Our data identify KCNT1 as a major disease-associated gene in Malignant migrating partial seizures of infancy . | |
| 23086396 | Mutations in KCNT1 cause a severe form of ADNFLE and sporadic NFLE. |
MARAKLPRSPSEGKAGPGGAPAGAAAPEEPHGLSPLLPARGGGSVGSDVGQRLPVEDFSLDSSLSQVQVE 1 - 70 FYVNENTFKERLKLFFIKNQRSSLRIRLFNFSLKLLTCLLYIVRVLLDDPALGIGCWGCPKQNYSFNDSS 71 - 140 SEINWAPILWVERKMTLWAIQVIVAIISFLETMLLIYLSYKGNIWEQIFRVSFVLEMINTLPFIITIFWP 141 - 210 PLRNLFIPVFLNCWLAKHALENMINDFHRAILRTQSAMFNQVLILFCTLLCLVFTGTCGIQHLERAGENL 211 - 280 SLLTSFYFCIVTFSTVGYGDVTPKIWPSQLLVVIMICVALVVLPLQFEELVYLWMERQKSGGNYSRHRAQ 281 - 350 TEKHVVLCVSSLKIDLLMDFLNEFYAHPRLQDYYVVILCPTEMDVQVRRVLQIPLWSQRVIYLQGSALKD 351 - 420 QDLMRAKMDNGEACFILSSRNEVDRTAADHQTILRAWAVKDFAPNCPLYVQILKPENKFHVKFADHVVCE 421 - 490 EECKYAMLALNCICPATSTLITLLVHTSRGQEGQESPEQWQRMYGRCSGNEVYHIRMGDSKFFREYEGKS 491 - 560 FTYAAFHAHKKYGVCLIGLKREDNKSILLNPGPRHILAASDTCFYINITKEENSAFIFKQEEKRKKRAFS 561 - 630 GQGLHEGPARLPVHSIIASMGTVAMDLQGTEHRPTQSGGGGGGSKLALPTENGSGSRRPSIAPVLELADS 631 - 700 SALLPCDLLSDQSEDEVTPSDDEGLSVVEYVKGYPPNSPYIGSSPTLCHLLPVKAPFCCLRLDKGCKHNS 701 - 770 YEDAKAYGFKNKLIIVSAETAGNGLYNFIVPLRAYYRSRKELNPIVLLLDNKPDHHFLEAICCFPMVYYM 771 - 840 EGSVDNLDSLLQCGIIYADNLVVVDKESTMSAEEDYMADAKTIVNVQTMFRLFPSLSITTELTHPSNMRF 841 - 910 MQFRAKDSYSLALSKLEKRERENGSNLAFMFRLPFAAGRVFSISMLDTLLYQSFVKDYMITITRLLLGLD 911 - 980 TTPGSGYLCAMKITEGDLWIRTYGRLFQKLCSSSAEIPIGIYRTESHVFSTSESQISVNVEDCEDTREVK 981 - 1050 GPWGSRAGTGGSSQGRHTGGGDPAEHPLLRRKSLQWARRLSRKAPKQAGRAAAAEWISQQRLSLYRRSER 1051 - 1120 QELSELVKNRMKHLGLPTTGYEDVANLTASDVMNRVNLGYLQDEMNDHQNTLSYVLINPPPDTRLEPSDI 1121 - 1190 VYLIRSDPLAHVASSSQSRKSSCSHKLSSCNPETRDETQL 1191 - 1230 //
| PMID | Year | Title | |
|---|---|---|---|
| 26725113 | 2016 | Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different Mechanisms. | |
| 26140313 | 2015 | De novo KCNT1 mutations in early-onset epileptic encephalopathy. | |
| 26122718 | 2015 | Mutations in KCNT1 cause a spectrum of focal epilepsies. | |
| 25482562 | 2014 | Human slack potassium channel mutations increase positive cooperativity between individual channels. | |
| 25347289 | 2014 | Cell volume changes regulate slick (Slo2.1), but not slack (Slo2.2) K+ channels. | |
| 25339316 | 2014 | Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome. | |
| 24591078 | 2014 | KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. | |
| 24463883 | 2014 | Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. | |
| 24315024 | 2014 | Lack of pathogenic mutations in six patients with MMPSI. | |
| 24279416 | 2014 | Gene-wide tagging study of the association between KCNT1 polymorphisms and the susceptibility and efficacy of genetic generalized epilepsy in Chinese population. | |
| 24029078 | 2013 | A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. | |
| 23147853 | 2012 | Genetics: mutations in potassium channel KCNT1-a novel driver of epilepsy pathogenesis. | |
| 23086397 | 2012 | De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. | |
| 23086396 | 2012 | Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. | |
| 20512134 | 2010 | Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack. | |
| 16382103 | 2005 | International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels. | |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 15164053 | 2004 | DNA sequence and analysis of human chromosome 9. | |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | |
| 10718198 | 2000 | 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. |
