rs1555850868
|
|
C |
0.700 |
CausalMutation |
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 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.
|
29129156 |
2017 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.
|
27861786 |
2017 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
|
27602407 |
2016 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
|
25982755 |
2015 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
|
24318194 |
2014 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
|
23621294 |
2013 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
|
24107868 |
2013 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.
|
22169383 |
2012 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
|
22275249 |
2012 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
|
22926866 |
2012 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
|
20196795 |
2010 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Nervous system KV7 disorders: breakdown of a subthreshold brake.
|
18238816 |
2008 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
|
17675531 |
2007 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
|
17872363 |
2007 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.
|
16829045 |
2006 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.
|
15608631 |
2005 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
|
14985406 |
2004 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
|
12742592 |
2003 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
|
11572947 |
2001 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.
|
10781098 |
2000 |
rs1555850868
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.
|
10323247 |
1999 |