Gene: KCNQ2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761188359
rs761188359
KCNQ2
0.010 GeneticVariation BEFREE Knock-in mice displayed reduced M-current suppression when challenged by a muscarinic agonist, oxotremorine-M. Kv7.2(S559A) mice were resistant to chemoconvulsant-induced seizures with no mortality. 30146722

2018
dbSNP: rs796052650
rs796052650
KCNQ2 ; LOC105372724
0.010 GeneticVariation BEFREE We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or seizures and brain damage. 28817111

2018
dbSNP: rs117067974
rs117067974
KCNQ2
0.010 GeneticVariation BEFREE We hypothesize that patients with the KCNQ2 E515D mutation are susceptible to seizures. 28038823

2017
dbSNP: rs118192211
rs118192211
KCNQ2
0.010 GeneticVariation BEFREE The different KCNQ2 abnormalities led to different phenotypes and included a novel intragenic duplication, c.419_430dup, in an infant with BFNS, a 0.761Mb 20q13.3 contiguous gene deletion in an infant with seizures at 3 months, and a recurrent de novo missense mutation c.881C>T in a neonate with "KCNQ2-encephalopathy." 25052858

2014
dbSNP: rs28939683
rs28939683
KCNQ2
0.010 GeneticVariation BEFREE Adult mice homozygous for Y284C, heretofore unexamined in animals, presented with spontaneous seizures, whereas A306T homozygotes died early. 24586341

2014
dbSNP: rs1085307920
rs1085307920
KCNQ2
0.010 GeneticVariation BEFREE Scn2a(Q54) transgenic mice have a mutation in Scn2a that results in spontaneous, adult-onset partial motor seizures, and mice carrying the Kcnq2-V182M mutation exhibit increased susceptibility to induced seizures, and rare spontaneous seizures as adults. 21156207

2011
dbSNP: rs797044938
rs797044938
KCNQ2
A 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015
dbSNP: rs1568940442
rs1568940442
KCNQ2
A 0.700 GeneticVariation 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
dbSNP: rs587777219
rs587777219
KCNQ2
A 0.700 GeneticVariation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266

2015
dbSNP: rs796052653
rs796052653
KCNQ2 ; LOC105372724
T 0.700 CausalMutation CLINVAR Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 25959266

2015
dbSNP: rs1555850151
rs1555850151
KCNQ2
GGCCCA 0.700 GeneticVariation 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
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013
dbSNP: rs1568940442
rs1568940442
KCNQ2
A 0.700 GeneticVariation CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013
dbSNP: rs1568940442
rs1568940442
KCNQ2
A 0.700 GeneticVariation CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868

2013
dbSNP: rs1568940442
rs1568940442
KCNQ2
A 0.700 GeneticVariation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187

2013
dbSNP: rs796052653
rs796052653
KCNQ2 ; LOC105372724
T 0.700 CausalMutation CLINVAR Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. 24107868

2013
dbSNP: rs796052653
rs796052653
KCNQ2 ; LOC105372724
T 0.700 CausalMutation CLINVAR Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 23621294

2013
dbSNP: rs587777219
rs587777219
KCNQ2
A 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 22926866

2012
dbSNP: rs1555850151
rs1555850151
KCNQ2
GGCCCA 0.700 GeneticVariation CLINVAR A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy. 21937445

2011
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. 20119593

2010
dbSNP: rs1568940442
rs1568940442
KCNQ2
A 0.700 GeneticVariation CLINVAR Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. 17475800

2007
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. 14985406

2004
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003
dbSNP: rs1555850151
rs1555850151
KCNQ2
GGCCCA 0.700 GeneticVariation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003