Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886044717
rs886044717
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. 24120652 2014
dbSNP: rs397515405
rs397515405
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		T 0.800 CausalMutation CLINVAR Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396 2012
dbSNP: rs397515405
rs397515405
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		0.800 GeneticVariation UNIPROT Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396 2012
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		0.800 GeneticVariation UNIPROT Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396 2012
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		C 0.800 CausalMutation CLINVAR KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 24591078 2014
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		C 0.800 CausalMutation CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148 2017
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		C 0.800 CausalMutation CLINVAR Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396 2012
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		C 0.800 CausalMutation CLINVAR Regional Specificity of GABAergic Regulation of Cross-Modal Plasticity in Mouse Visual Cortex after Unilateral Enucleation. 26269628 2015
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		C 0.800 CausalMutation CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		C 0.800 CausalMutation CLINVAR Quinidine in the treatment of KCNT1-positive epilepsies. 26369628 2015
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.800 CausalMutation CLINVAR KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 24591078 2014
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.800 CausalMutation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313 2015
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		0.800 GeneticVariation UNIPROT Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396 2012
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.800 CausalMutation CLINVAR Mutations in KCNT1 cause a spectrum of focal epilepsies. 26122718 2015
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.800 CausalMutation CLINVAR Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. 23086396 2012
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.800 CausalMutation CLINVAR Human slack potassium channel mutations increase positive cooperativity between individual channels. 25482562 2014
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.800 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
dbSNP: rs1060503696
rs1060503696
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		G 0.700 CausalMutation CLINVAR
dbSNP: rs397515402
rs397515402
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012
dbSNP: rs397515402
rs397515402
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 24591078 2014
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR Mutations in KCNT1 cause a spectrum of focal epilepsies. 26122718 2015
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. 24591078 2014
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR Human slack potassium channel mutations increase positive cooperativity between individual channels. 25482562 2014
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313 2015