Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515403
rs397515403
KCNT1
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017
dbSNP: rs397515403
rs397515403
KCNT1
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
KCNT1
A 0.800 CausalMutation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313

2015
dbSNP: rs397515404
rs397515404
KCNT1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs397515404
rs397515404
KCNT1
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
KCNT1
A 0.800 CausalMutation CLINVAR KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 26740507

2016
dbSNP: rs397515404
rs397515404
KCNT1
0.800 GeneticVariation UNIPROT De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397

2012
dbSNP: rs397515404
rs397515404
KCNT1
A 0.800 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
dbSNP: rs397515404
rs397515404
KCNT1
0.800 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078

2013
dbSNP: rs397515404
rs397515404
KCNT1
0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs397515404
rs397515404
KCNT1
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017
dbSNP: rs397515404
rs397515404
KCNT1
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
KCNT1
0.800 GeneticVariation UNIPROT Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883

2014
dbSNP: rs397515404
rs397515404
KCNT1
A 0.800 CausalMutation CLINVAR Human slack potassium channel mutations increase positive cooperativity between individual channels. 25482562

2014
dbSNP: rs397515404
rs397515404
KCNT1
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs587777264
rs587777264
KCNT1
0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847

2017
dbSNP: rs587777264
rs587777264
KCNT1
A 0.800 CausalMutation CLINVAR De novo KCNT1 mutations in early-onset epileptic encephalopathy. 26140313

2015
dbSNP: rs587777264
rs587777264
KCNT1
0.800 GeneticVariation UNIPROT Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883

2014
dbSNP: rs587777264
rs587777264
KCNT1
0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs587777264
rs587777264
KCNT1
0.800 GeneticVariation UNIPROT De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. 23086397

2012
dbSNP: rs587777264
rs587777264
KCNT1
A 0.800 CausalMutation CLINVAR Mutations in KCNT1 cause a spectrum of focal epilepsies. 26122718

2015
dbSNP: rs587777264
rs587777264
KCNT1
A 0.800 CausalMutation CLINVAR Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy. 26597493

2016
dbSNP: rs587777264
rs587777264
KCNT1
0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs587777264
rs587777264
KCNT1
A 0.800 CausalMutation CLINVAR A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078

2013
dbSNP: rs587777264
rs587777264
KCNT1
0.800 GeneticVariation UNIPROT A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. 24029078

2013