rs118192212
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555869758
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1568925507
|
|
TCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAAC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1568927820
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397514582
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs794727134
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs794727740
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs794727741
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs797044938
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs886041339
|
|
CG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555850151
|
|
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 |
rs74315390
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
|
9425895 |
1998 |
rs74315390
|
|
|
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 |
rs74315390
|
|
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 |
rs28939683
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Adult mice homozygous for Y284C, heretofore unexamined in animals, presented with spontaneous seizures, whereas A306T homozygotes died early.
|
24586341 |
2014 |
rs74315390
|
|
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 |
rs1568940442
|
|
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 |
rs796052653
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
|
23621294 |
2013 |
rs797044938
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
rs1568940442
|
|
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 |
rs74315390
|
|
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 |
rs1568940442
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
|
24107868 |
2013 |
rs796052653
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
|
24107868 |
2013 |
rs118192226
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Familial neonatal and infantile seizures: an autosomal-dominant disorder.
|
6476007 |
1984 |
rs118192226
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
|
25982755 |
2015 |