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