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: 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: 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: 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: 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: 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: 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