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: C0270612
Disease:
Leukoencephalopathy 		0.020 GeneticVariation BEFREE Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. 24120652 2014
dbSNP: rs886044717
rs886044717
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C0270612
Disease:
Leukoencephalopathy 		0.020 GeneticVariation BEFREE The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype. 28366665 2017
dbSNP: rs1057518066
rs1057518066
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C4552072
Disease:
X-linked infantile spasms 		0.010 GeneticVariation BEFREE The KCNT1-L437F variant, identified in a patient with refractory EIEE and status dystonicus, confers a gain-of-function channel phenotype characterized by instantaneous, voltage-dependent activation. 31560846 2019
dbSNP: rs886041691
rs886041691
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3494976
Disease:
Migrating partial seizures in infancy 		0.010 GeneticVariation BEFREE In the present study we report identification by whole exome sequencing (WES) of two de novo, heterozygous KCNT1 mutations (G288S and, not previously reported, M516V) in two unrelated MMPSI probands. 26784557 2016
dbSNP: rs886044717
rs886044717
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C4552072
Disease:
X-linked infantile spasms 		0.010 GeneticVariation BEFREE An exome sequencing study identified a p.Phe932Ile KCNT1 mutation as the disease-causing change in a child with severe early infantile epileptic encephalopathy and abnormal myelination (Vanderver et al., 2014). 28366665 2017
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: rs370521183
rs370521183
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397515402
rs397515402
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 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: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 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: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313 2015
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 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: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR Mutations in KCNT1 cause a spectrum of focal epilepsies. 26122718 2015
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 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: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313 2015
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397 2012
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 26740507 2016
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637 2014
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284 2016
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.800 CausalMutation CLINVAR Human slack potassium channel mutations increase positive cooperativity between individual channels. 25482562 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: 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