Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Functional analysis of potassium channels in Kv7.2 G271V mutant causing early onset familial epilepsy. 25960349

2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266

2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. 25046240

2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. 24375629

2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. 24318194

2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294

2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Novel KCNQ2 mutation in a large Emirati family with benign familial neonatal seizures. 23290024

2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. 22169383

2012
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. 22275249

2012
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures. 21913284

2011
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy. 21937445

2011
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. 20119593

2010
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures. 19344764

2009
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions. 19559753

2009
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Novel mutation in KCNQ2 causing benign familial neonatal seizures. 19818940

2009
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy. 18006581

2008
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR A novel missense mutation (N258S) in the KCNQ2 gene in a Turkish family afflicted with benign familial neonatal convulsions (BFNC). 18246739

2008
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Calmodulin regulates the trafficking of KCNQ2 potassium channels. 17993630

2008
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. 17475800

2007
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Benign familial neonatal convulsions: always benign? 17129708

2007
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy. 16916607

2006
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
SEIZURES, BENIGN FAMILIAL NEONATAL, 1 		0.700 CausalMutation CLINVAR A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years. 16686649

2006