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 |
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 |
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 |
rs74315390
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Seizure characteristics in chromosome 20 benign familial neonatal convulsions.
|
8327138 |
1993 |
rs74315390
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
|
9425895 |
1998 |
rs74315390
|
|
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 |
rs74315390
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
|
9872318 |
1998 |
rs74315390
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
|
26138355 |
2016 |
rs74315390
|
|
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 |
rs118192212
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs118192226
|
|
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 |
rs118192226
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
|
14985406 |
2004 |
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 |
rs118192226
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
|
23360469 |
2013 |
rs118192226
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.
|
20119593 |
2010 |
rs1555850151
|
|
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 |
rs1555850151
|
|
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 |
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 |
rs1555869758
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1568925507
|
|
TCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAAC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1568927820
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
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 |
rs1568940442
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
|
23708187 |
2013 |
rs1568940442
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
|
23360469 |
2013 |