rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.
|
29129156 |
2017 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
|
28602030 |
2017 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
|
27861786 |
2017 |
rs797044938
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
|
27861786 |
2017 |
rs797044938
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.
|
29129156 |
2017 |
rs797044938
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
|
28602030 |
2017 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
|
27602407 |
2016 |
rs797044938
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
|
27602407 |
2016 |
rs797044938
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
rs797044938
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
|
25982755 |
2015 |
rs797044938
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
|
25982755 |
2015 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
|
24318194 |
2014 |
rs797044938
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
|
24318194 |
2014 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
|
24107868 |
2013 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
|
23621294 |
2013 |
rs797044938
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
|
24107868 |
2013 |
rs797044938
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
rs797044938
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
|
23621294 |
2013 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
|
22275249 |
2012 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.
|
22169383 |
2012 |
rs1555873985
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
|
22926866 |
2012 |