Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. 27861786

2017

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation 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

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. 29129156

2017

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407

2016

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. 24318194

2014

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294

2013

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868

2013

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation. 22169383

2012

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 22926866

2012

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. 22275249

2012

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 20196795

2010

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Nervous system KV7 disorders: breakdown of a subthreshold brake. 18238816

2008

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. 17872363

2007

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. 17675531

2007

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. 16829045

2006

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior. 15608631

2005

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. 14985406

2004

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 12742592

2003

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. 11572947

2001

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. 10781098

2000

dbSNP: rs1555869758
rs1555869758
C 0.700 GeneticVariation CLINVAR Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. 10323247

1999