|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.
|
27864847 |
2017 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
|
26138355 |
2016 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
CausalMutation
|
CLINVAR |
Early and effective treatment of KCNQ2 encephalopathy.
|
25880994 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
GeneticVariation
|
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 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
|
25818041 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
CausalMutation
|
CLINVAR |
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
|
25959266 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
|
24463883 |
2014 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
CausalMutation
|
CLINVAR |
The variable phenotypes of KCNQ-related epilepsy.
|
25052858 |
2014 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
CausalMutation
|
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
CausalMutation
|
CLINVAR |
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
|
23621294 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.
|
15249611 |
2004 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
|
12742592 |
2003 |