|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
De novo KCNA2 mutations cause hereditary spastic paraplegia.
|
28032718 |
2017 |
|
rs786205232
|
|
Muscle hypotonia
|
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
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Reply.
|
28019717 |
2017 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
|
27543892 |
2016 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum.
|
27117551 |
2016 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
|
26648591 |
2016 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
|
27733563 |
2016 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.
|
25477152 |
2015 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
|
25751627 |
2015 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A new Kv1.2 channelopathy underlying cerebellar ataxia.
|
20696761 |
2010 |
|
rs786205232
|
|
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
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
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 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
How does voltage open an ion channel?
|
16704338 |
2006 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores.
|
15694325 |
2005 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The channelopathies: novel insights into molecular and genetic mechanisms of human disease.
|
16075038 |
2005 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Voltage sensor of Kv1.2: structural basis of electromechanical coupling.
|
16002579 |
2005 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Crystal structure of a mammalian voltage-dependent Shaker family K+ channel.
|
16002581 |
2005 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A proton pore in a potassium channel voltage sensor reveals a focused electric field.
|
14765197 |
2004 |
|
rs786205232
|
|
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
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The voltage-gated potassium channels and their relatives.
|
12214225 |
2002 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Histidine scanning mutagenesis of basic residues of the S4 segment of the shaker k+ channel.
|
11331357 |
2001 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The structure of the potassium channel: molecular basis of K+ conduction and selectivity.
|
9525859 |
1998 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel.
|
8663992 |
1996 |
|
rs786205232
|
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Contribution of the S4 segment to gating charge in the Shaker K+ channel.
|
8663993 |
1996 |
|
rs786205232
|
|
Muscle hypotonia
|
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 |