Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: 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: rs10122976
rs10122976
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs138282349
rs138282349
Entrez Id: 57582;107987140
Gene Symbol: KCNT1;LOC107987140
KCNT1;LOC107987140
CUI: C0376532
Disease:
Epilepsy, Rolandic 		A 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs1424788778
rs1424788778
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.700 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs1564367605
rs1564367605
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C0036572
Disease:
Seizures 		A 0.700 GeneticVariation CLINVAR Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy. 28488083 2017
dbSNP: rs397515406
rs397515406
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		C 0.700 CausalMutation CLINVAR A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 29186148 2017
dbSNP: rs886043455
rs886043455
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.700 CausalMutation CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
dbSNP: rs886043455
rs886043455
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 29100083 2017
dbSNP: rs1424788778
rs1424788778
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		0.700 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs1564367605
rs1564367605
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C0036572
Disease:
Seizures 		A 0.700 GeneticVariation CLINVAR KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 26740507 2016
dbSNP: rs397515403
rs397515403
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs397515404
rs397515404
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 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: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 26740507 2016
dbSNP: rs397515407
rs397515407
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591 2016
dbSNP: rs587777264
rs587777264
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy. 26597493 2016
dbSNP: rs886043455
rs886043455
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		T 0.700 CausalMutation CLINVAR A targeted resequencing gene panel for focal epilepsy. 27029629 2016
dbSNP: rs886043455
rs886043455
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		A 0.700 CausalMutation CLINVAR A targeted resequencing gene panel for focal epilepsy. 27029629 2016
dbSNP: rs886043455
rs886043455
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554306
Disease:
EPILEPSY, NOCTURNAL FRONTAL LOBE, 5 		T 0.700 CausalMutation CLINVAR A targeted resequencing gene panel for focal epilepsy. 27029629 2016
dbSNP: rs886043455
rs886043455
Entrez Id: 57582;107987139
Gene Symbol: KCNT1;LOC107987139
KCNT1;LOC107987139
CUI: C3554195
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 		A 0.700 CausalMutation CLINVAR A targeted resequencing gene panel for focal epilepsy. 27029629 2016
dbSNP: rs1564367605
rs1564367605
Entrez Id: 57582
Gene Symbol: KCNT1
KCNT1
CUI: C0036572
Disease:
Seizures 		A 0.700 GeneticVariation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313 2015