Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205232
rs786205232
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

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR Reply. 28019717

2017

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718

2017

dbSNP: rs786205232
rs786205232
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

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152

2015

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR A new Kv1.2 channelopathy underlying cerebellar ataxia. 20696761

2010

dbSNP: rs786205232
rs786205232
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

dbSNP: rs786205232
rs786205232
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

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR How does voltage open an ion channel? 16704338

2006

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR Voltage sensor of Kv1.2: structural basis of electromechanical coupling. 16002579

2005

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores. 15694325

2005

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR Crystal structure of a mammalian voltage-dependent Shaker family K+ channel. 16002581

2005

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR The channelopathies: novel insights into molecular and genetic mechanisms of human disease. 16075038

2005

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR A proton pore in a potassium channel voltage sensor reveals a focused electric field. 14765197

2004

dbSNP: rs786205232
rs786205232
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

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR The voltage-gated potassium channels and their relatives. 12214225

2002

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR Histidine scanning mutagenesis of basic residues of the S4 segment of the shaker k+ channel. 11331357

2001

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR The structure of the potassium channel: molecular basis of K+ conduction and selectivity. 9525859

1998

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel. 8663992

1996

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR Contribution of the S4 segment to gating charge in the Shaker K+ channel. 8663993

1996

dbSNP: rs786205232
rs786205232
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

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR Contrasting subcellular localization of the Kv1.2 K+ channel subunit in different neurons of rat brain. 8158277

1994

dbSNP: rs786205232
rs786205232
0.700 CausalMutation CLINVAR An essential 'set' of K+ channels conserved in flies, mice and humans. 1377421

1992