DisGeNET - a database of gene-disease associations

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, C3554195

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs370521183

KCNT1

0.800

GeneticVariation

UNIPROT

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

23086397

2012

dbSNP:

rs370521183

KCNT1

0.800

GeneticVariation

UNIPROT

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

24463883

2014

dbSNP:

rs370521183

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:

rs370521183

KCNT1

0.800

CausalMutation

CLINVAR

dbSNP:

rs370521183

KCNT1

0.800

GeneticVariation

UNIPROT

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

23708187

2013

dbSNP:

rs370521183

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:

rs370521183

KCNT1

0.800

GeneticVariation

UNIPROT

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

24029078

2013

dbSNP:

rs397515402

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:

rs397515402

KCNT1

0.800

CausalMutation

CLINVAR

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

23086397

2012

dbSNP:

rs397515402

KCNT1

0.800

GeneticVariation

UNIPROT

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

24463883

2014

dbSNP:

rs397515402

KCNT1

0.800

GeneticVariation

UNIPROT

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

23708187

2013

dbSNP:

rs397515402

KCNT1

0.800

CausalMutation

CLINVAR

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

24591078

2014

dbSNP:

rs397515402

KCNT1

0.800

GeneticVariation

UNIPROT

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

24029078

2013

dbSNP:

rs397515402

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:

rs397515402

KCNT1

0.800

GeneticVariation

UNIPROT

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

23086397

2012

dbSNP:

rs397515403

KCNT1

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

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:

rs397515403

KCNT1

0.800

GeneticVariation

UNIPROT

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

24029078

2013

dbSNP:

rs397515403

KCNT1

0.800

CausalMutation

CLINVAR

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

26140313

2015

dbSNP:

rs397515403

KCNT1

0.800

GeneticVariation

UNIPROT

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

23086397

2012

dbSNP:

rs397515403

KCNT1

0.800

CausalMutation

CLINVAR

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

24591078

2014

dbSNP:

rs397515403

KCNT1

0.800

CausalMutation

CLINVAR

Mutations in KCNT1 cause a spectrum of focal epilepsies.

26122718

2015

dbSNP:

rs397515403

KCNT1

0.800

GeneticVariation

UNIPROT

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

24463883

2014

dbSNP:

rs397515403

KCNT1

0.800

GeneticVariation

UNIPROT

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

23708187

2013

dbSNP:

rs397515403

KCNT1

0.800

CausalMutation

CLINVAR

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

25482562

2014