|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
|
22275249 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
|
22275249 |
2012 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome.
|
22926866 |
2012 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
|
20196795 |
2010 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009.
|
20196795 |
2010 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Nervous system KV7 disorders: breakdown of a subthreshold brake.
|
18238816 |
2008 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Nervous system KV7 disorders: breakdown of a subthreshold brake.
|
18238816 |
2008 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
|
17872363 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
|
17675531 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
|
17872363 |
2007 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
|
17675531 |
2007 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.
|
16829045 |
2006 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy.
|
16829045 |
2006 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.
|
15608631 |
2005 |
|
Muscle hypotonia
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.
|
15608631 |
2005 |
|
Movement Disorders
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
|
14985406 |
2004 |
|
Muscle hypotonia
|
|
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 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 |
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 |
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 |
Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.
|
10781098 |
2000 |
|
Muscle hypotonia
|
|
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 |
Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.
|
10323247 |
1999 |