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 		0.110 Biomarker group BEFREE A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. 29129156 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. 27861786 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. 29129156 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures. 28602030 2017
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group 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 		0.110 GeneticVariation group CLINVAR KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407 2016
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755 2015
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. 24318194 2014
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776 2013
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group 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 		0.110 GeneticVariation group CLINVAR Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 22926866 2012
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. 22275249 2012
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 20196795 2010
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Nervous system KV7 disorders: breakdown of a subthreshold brake. 18238816 2008
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. 17872363 2007
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. 17675531 2007
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. 16829045 2006
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior. 15608631 2005
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. 14985406 2004
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 12742592 2003
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. 11572947 2001
Entrez Id: 3785
Gene Symbol: KCNQ2
KCNQ2 		0.110 GeneticVariation group CLINVAR Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. 10781098 2000