DisGeNET - a database of gene-disease associations

KCNT1, potassium sodium-activated channel subfamily T member 1, 57582

N. diseases: 72; N. variants: 23

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs587777264

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

CausalMutation

CLINVAR

Mutations in KCNT1 cause a spectrum of focal epilepsies.

26122718

2015

dbSNP:

rs370521183

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

24463883

2014

dbSNP:

rs397515402

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

24463883

2014

dbSNP:

rs397515402

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

CausalMutation

CLINVAR

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.

24591078

2014

dbSNP:

rs397515403

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

CausalMutation

CLINVAR

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.

24591078

2014

dbSNP:

rs397515403

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

24463883

2014

dbSNP:

rs397515403

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

CausalMutation

CLINVAR

Human slack potassium channel mutations increase positive cooperativity between individual channels.

25482562

2014

dbSNP:

rs397515404

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

CausalMutation

CLINVAR

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

25326637

2014

dbSNP:

rs397515404

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

24463883

2014

dbSNP:

rs397515404

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

CausalMutation

CLINVAR

Human slack potassium channel mutations increase positive cooperativity between individual channels.

25482562

2014

dbSNP:

rs397515406

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554306
Disease:

EPILEPSY, NOCTURNAL FRONTAL LOBE, 5

0.800

CausalMutation

CLINVAR

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.

24591078

2014

dbSNP:

rs397515407

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554306
Disease:

EPILEPSY, NOCTURNAL FRONTAL LOBE, 5

0.800

CausalMutation

CLINVAR

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.

24591078

2014

dbSNP:

rs397515407

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554306
Disease:

EPILEPSY, NOCTURNAL FRONTAL LOBE, 5

0.800

CausalMutation

CLINVAR

Human slack potassium channel mutations increase positive cooperativity between individual channels.

25482562

2014

dbSNP:

rs587777264

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

24463883

2014

dbSNP:

rs370521183

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

23708187

2013

dbSNP:

rs370521183

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

24029078

2013

dbSNP:

rs397515402

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

23708187

2013

dbSNP:

rs397515402

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

24029078

2013

dbSNP:

rs397515403

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

24029078

2013

dbSNP:

rs397515403

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

23708187

2013

dbSNP:

rs397515404

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

24029078

2013

dbSNP:

rs397515404

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

23708187

2013

dbSNP:

rs587777264

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

23708187

2013

dbSNP:

rs587777264

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

CausalMutation

CLINVAR

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

24029078

2013

dbSNP:

rs587777264

Entrez Id:	57582
Gene Symbol:	KCNT1

KCNT1

CUI:	C3554195
Disease:

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14

0.800

GeneticVariation

UNIPROT

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

24029078

2013