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 |
rs794727134
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs794727740
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs796052653
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
|
24107868 |
2013 |
rs796052653
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
|
23621294 |
2013 |
rs796052653
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
|
25959266 |
2015 |
rs1568925507
|
|
TCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAAC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|