|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
|
11572947 |
2001 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
|
9425895 |
1998 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
|
27602407 |
2016 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
|
22926866 |
2012 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.
|
29129156 |
2017 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Nervous system KV7 disorders: breakdown of a subthreshold brake.
|
18238816 |
2008 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.
|
28602030 |
2017 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
|
24318194 |
2014 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
|
14985406 |
2004 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
|
12742592 |
2003 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.
|
22169383 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone.
|
6965523 |
1980 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.
|
22169383 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A potassium channel mutation in neonatal human epilepsy.
|
9430594 |
1998 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
|
22275249 |
2012 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.
|
10781098 |
2000 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.
|
10323247 |
1999 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.
|
27602407 |
2016 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.
|
29129156 |
2017 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
|
26993267 |
2016 |