Gene: KCNQ2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR Familial neonatal and infantile seizures: an autosomal-dominant disorder. 6476007

1984
dbSNP: rs118192212
rs118192212
KCNQ2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555869758
rs1555869758
KCNQ2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1568925507
rs1568925507
KCNQ2
TCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAAC 0.700 CausalMutation CLINVAR

dbSNP: rs1568927820
rs1568927820
KCNQ2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs397514582
rs397514582
KCNQ2
A 0.700 CausalMutation CLINVAR

dbSNP: rs794727134
rs794727134
KCNQ2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs794727740
rs794727740
KCNQ2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs794727741
rs794727741
KCNQ2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs797044938
rs797044938
KCNQ2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041339
rs886041339
KCNQ2
CG 0.700 CausalMutation CLINVAR

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