×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
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
Overgrowth
0.100
CausalMutation
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
Overgrowth
0.100
CausalMutation
CLINVAR
A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.
29129156
2017
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
CLINVAR
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
27602407
2016
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
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
Overgrowth
0.100
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
Overgrowth
0.100
CausalMutation
CLINVAR
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
25982755
2015
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
CLINVAR
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
24318194
2014
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
CLINVAR
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
23849776
2013
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
CLINVAR
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
24107868
2013
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
CLINVAR
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
23621294
2013
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
CLINVAR
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
22926866
2012
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
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
Overgrowth
0.100
CausalMutation
CLINVAR
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
22275249
2012
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
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
Overgrowth
0.100
CausalMutation
CLINVAR
Nervous system KV7 disorders: breakdown of a subthreshold brake.
18238816
2008
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
CLINVAR
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
17675531
2007
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
CLINVAR
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
17872363
2007
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
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
Overgrowth
0.100
CausalMutation
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
Overgrowth
0.100
CausalMutation
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
Overgrowth
0.100
CausalMutation
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
Overgrowth
0.100
CausalMutation
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
Overgrowth
0.100
CausalMutation
CLINVAR
Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.
10781098
2000
×
Entrez Id:
3785
Gene Symbol:
KCNQ2
KCNQ2
Overgrowth
0.100
CausalMutation
CLINVAR
Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.
10323247
1999