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: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. 28687180

2018
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. 28133863

2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		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
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		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: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR Early and effective treatment of KCNQ2 encephalopathy. 25880994

2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation 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
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation 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
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266

2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25818041

2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation 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
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR The variable phenotypes of KCNQ-related epilepsy. 25052858

2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response. 24371303

2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		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: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate? 25566516

2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		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: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		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: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation 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
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868

2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. 23440208

2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. 23692823

2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. 22275249

2012
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 22926866

2012
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion. 18353052

2008
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 		0.700 CausalMutation CLINVAR Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. 17872363

2007