| Type | Description |
|---|---|
| Definition | potassium sodium-activated channel subfamily T member 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-06-27 11:47:00 | KCNT1 mutations lead to a severe form of epilepsy; this KCNT1 mutation was found to increase the Slack current in neurons. | 31350261 |
| 2020-06-20 12:49:00 | Extracerebral symptoms probably linked with KCNT1 mutation were present, including arteriovenous fistula, dilated cardiomyopathy and precocious puberty. Eight patients (47%) had died at 3 (1.5-15.4) years including three from suspected sudden unexpected death in epilepsy. | 31532509 |
| 2020-02-22 10:21:00 | that KCNT1 epileptogenicity may result not only from dysregulated excitability by controlling Na+K+ transport | 30847371 |
| 2019-11-09 13:05:00 | KCNT1 is likely to be a major gene causing early infantile epileptic encephalopathy type 14 | 31532594 |
| 2019-07-27 10:26:00 | Gain-of-function KCNT1 pathogenic variants cause a spectrum of severe focal epilepsies with onset in early infancy. Computational modeling analysis implicates abnormal pore function (F346L) and impaired tetramer formation (F502V) as putative disease mechanisms. All evaluated KCNT1 variants resulted in marked gain of function with significantly increased channel amplitude and variable blockade by quinidine. | 29196579 |
| Type | IDs |
|---|---|
| Synonymous | EIEE14, ENFL5, KCa4.1, SLACK, Slo2.2, bA100C15.2 |
| Gene |
UniProtKB-ID:
KCNT1_HUMAN,
A0A0R4J2E0_HUMAN
UniprotKB:
Q5JUK3,
A0A0R4J2E0
UniParc:
UPI000192C42B,
UPI000058E393,
UPI0001B79173,
UPI000041A56E,
UPI000041782B
EMBL:
CH471090,
AK127272,
BC171770,
AL158822,
BC136618,
AB037843
Ensembl:
ENSG00000107147
KO:
hsa:57582
|
| Nucleutide sequences |
EMBL-CDS:
EAW88180.1,
AAI71770.1,
BAG54469.1,
BAA92660.1,
AAI36619.1
Ensembl_TRS:
ENST00000628528,
ENST00000371757,
ENST00000488444,
ENST00000487664,
ENST00000263604
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000417851,
ENSP00000360822,
ENSP00000486374,
ENSP00000419007,
ENSP00000263604
RefSeq:
XP_011517182.1,
XP_016870421.1,
XP_016870422.1,
XP_011517183.1,
NP_001258932.1,
NP_065873.2,
XP_016870420.1,
XP_024303386.1,
XP_024303385.1,
XP_011517180.1,
XP_011517181.1,
XP_011517179.1
|
| Others |
UniRef100:
UniRef100_Q5JUK3,
UniRef100_A0A0R4J2E0
UniRef90:
UniRef90_Q5JUK3,
UniRef90_Q9Z258-2
UniRef50:
UniRef50_Q5JUK3,
UniRef50_Q5JUK3-2
UniGene:
Hs.104950
CCDS:
CCDS65188.1,
CCDS35175.2
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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