×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.
27062609
2017
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Reply.
28019717
2017
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
De novo KCNA2 mutations cause hereditary spastic paraplegia.
28032718
2017
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
26648591
2016
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.
27117551
2016
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
27543892
2016
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
27733563
2016
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.
25477152
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
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
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
A new Kv1.2 channelopathy underlying cerebellar ataxia.
20696761
2010
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Seizures and reduced life span in mice lacking the potassium channel subunit Kv1.2, but hypoexcitability and enlarged Kv1 currents in auditory neurons.
17634333
2007
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
How does voltage open an ion channel?
16704338
2006
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Voltage sensor of Kv1.2: structural basis of electromechanical coupling.
16002579
2005
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
The channelopathies: novel insights into molecular and genetic mechanisms of human disease.
16075038
2005
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores.
15694325
2005
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Crystal structure of a mammalian voltage-dependent Shaker family K+ channel.
16002581
2005
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
A proton pore in a potassium channel voltage sensor reveals a focused electric field.
14765197
2004
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
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
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
The voltage-gated potassium channels and their relatives.
12214225
2002
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Histidine scanning mutagenesis of basic residues of the S4 segment of the shaker k+ channel.
11331357
2001
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
The structure of the potassium channel: molecular basis of K+ conduction and selectivity.
9525859
1998
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Contribution of the S4 segment to gating charge in the Shaker K+ channel.
8663993
1996
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel.
8663992
1996
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
0.100
CausalMutation
phenotype
CLINVAR
Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain.
8046438
1994