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
|
|
0.010 |
GeneticVariation
|
BEFREE |
Adult mice homozygous for Y284C, heretofore unexamined in animals, presented with spontaneous seizures, whereas A306T homozygotes died early.
|
24586341 |
2014 |
Familial benign neonatal epilepsy
|
|
0.010 |
GeneticVariation
|
BEFREE |
To demonstrate the functionality of the kick-in methodology, we generated two mouse lines with separate mutant versions of the voltage-dependent potassium channel Kv7.2 (Kcnq2): p.Tyr284Cys (Y284C) and p.Ala306Thr (A306T); both variations have been associated with benign familial neonatal epilepsy.
|
24586341 |
2014 |
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 |
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
|
20298421 |
2010 |
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 |
CausalMutation
|
CLINVAR |
Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels.
|
11784811 |
2002 |
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 |
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 |
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
|
9872318 |
1998 |