|
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
|
|
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 |
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
|
25982755 |
2015 |
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
|
23360469 |
2013 |
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.
|
15249611 |
2004 |
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
|
14534157 |
2003 |
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
|
11572947 |
2001 |
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.
|
11175290 |
2000 |
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
|
9425895 |
1998 |
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.700 |
CausalMutation
|
CLINVAR |
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
|
25959266 |
2015 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.
|
23440208 |
2013 |
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion.
|
18353052 |
2008 |