Gene: KCNQ2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315390
rs74315390
KCNQ2
0.710 GeneticVariation BEFREE Adult Kcnq2(A306T/+) and Kcnq3(G311V/+) heterozygous knock-in mice exhibited reduced thresholds to electrically induced seizures compared to wild-type littermate mice. 18483067

2008
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: 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: 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: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR Adult mice homozygous for Y284C, heretofore unexamined in animals, presented with spontaneous seizures, whereas A306T homozygotes died early. 24586341

2014
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 26138355

2016
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138

1993
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. 9425895

1998
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions. 19453707

2009
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 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
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR Adult Kcnq2(A306T/+) and Kcnq3(G311V/+) heterozygous knock-in mice exhibited reduced thresholds to electrically induced seizures compared to wild-type littermate mice. 18483067

2008
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. 9872318

1998
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003
dbSNP: rs118192212
rs118192212
KCNQ2
C 0.700 CausalMutation CLINVAR

dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR Familial neonatal and infantile seizures: an autosomal-dominant disorder. 6476007

1984
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: 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: 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 Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013
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: 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: 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