|
| 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 |
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 |
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
|
23692823 |
2013 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
|
22275249 |
2012 |
|
| 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 |
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 |
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
|
17872363 |
2007 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Neonatal seizures with tonic clonic sequences and poor developmental outcome.
|
16039833 |
2005 |
|
| 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 |
AKAP150 signaling complex promotes suppression of the M-current by muscarinic agonists.
|
12754513 |
2003 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
|
12742592 |
2003 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
|
12742592 |
2003 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
|
11572947 |
2001 |
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
|
9425895 |
1998 |
|
| 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 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|