rs1064794738
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553181280
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553181282
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553181301
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553181323
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs763353895
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
A |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
|
27457812 |
2017 |
rs786205231
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs786205231
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
T |
0.800 |
CausalMutation |
CLINVAR |
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
|
27733563 |
2016 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
T |
0.800 |
CausalMutation |
CLINVAR |
Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.
|
25477152 |
2015 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
T |
0.800 |
CausalMutation |
CLINVAR |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
|
25751627 |
2015 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2.
|
21044565 |
2010 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
|
27733563 |
2016 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Contributions of Kv1.2, Kv1.5 and Kv2.1 subunits to the native delayed rectifier K(+) current in rat mesenteric artery smooth muscle cells.
|
12127166 |
2002 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel.
|
8663992 |
1996 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain.
|
8046438 |
1994 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
A proton pore in a potassium channel voltage sensor reveals a focused electric field.
|
14765197 |
2004 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.
|
27062609 |
2017 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
An essential 'set' of K+ channels conserved in flies, mice and humans.
|
1377421 |
1992 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
The structure of the potassium channel: molecular basis of K+ conduction and selectivity.
|
9525859 |
1998 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
|
27733563 |
2016 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Crystal structure of a mammalian voltage-dependent Shaker family K+ channel.
|
16002581 |
2005 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Effect of sensor domain mutations on the properties of voltage-gated ion channels: molecular dynamics studies of the potassium channel Kv1.2.
|
21044565 |
2010 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Voltage sensor of Kv1.2: structural basis of electromechanical coupling.
|
16002579 |
2005 |