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 |
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 |
|
|
|
rs1568927820
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1568940442
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
|
23360469 |
2013 |
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 |
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
|
24107868 |
2013 |
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 |
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 |
rs587777219
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
|
22926866 |
2012 |
rs587777219
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
|
25959266 |
2015 |
rs794727134
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs794727740
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs794727741
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs797044938
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1085307920
|
|
|
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 |
rs117067974
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We hypothesize that patients with the KCNQ2 E515D mutation are susceptible to seizures.
|
28038823 |
2017 |
rs118192211
|
|
|
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 |
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 |
rs761188359
|
|
|
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 |
rs796052650
|
|
|
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 |
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 |
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
|
26138355 |
2016 |