|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.
|
28687180 |
2018 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A basic residue in the proximal C-terminus is necessary for efficient activation of the M-channel subunit Kv7.2 by PI(4,5)P₂.
|
23291709 |
2013 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
|
17872363 |
2007 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
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 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.
|
18353052 |
2008 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
|
28133863 |
2017 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
|
22926866 |
2012 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.
|
24107868 |
2013 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
|
26138355 |
2016 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.
|
23440208 |
2013 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
|
24318194 |
2014 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A potassium channel mutation in neonatal human epilepsy.
|
9430594 |
1998 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?
|
25566516 |
2014 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.
|
15249611 |
2004 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
|
23692823 |
2013 |