Gene: KCNQ2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. 28687180 2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 GeneticVariation disease UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. 28133863 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 GeneticVariation disease UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 GeneticVariation disease UNIPROT Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 26138355 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 GeneticVariation disease UNIPROT Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Early and effective treatment of KCNQ2 encephalopathy. 25880994 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Myoclonic epilepsy evolved into West syndrome: a patient with a novel de novo KCNQ2 mutation. 25092550 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. 25740509 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 GeneticVariation disease UNIPROT Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. 25740509 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR The variable phenotypes of KCNQ-related epilepsy. 25052858 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. 24371303 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 GeneticVariation disease UNIPROT Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 24463883 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. 24318194 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate? 25566516 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 GermlineCausalMutation disease ORPHANET Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR De novo mutations in epileptic encephalopathies. 23934111 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.700 CausalMutation disease CLINVAR A basic residue in the proximal C-terminus is necessary for efficient activation of the M-channel subunit Kv7.2 by PI(4,5)P₂. 23291709 2013