Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Reply. 28019717

2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718

2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563

2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR A new Kv1.2 channelopathy underlying cerebellar ataxia. 20696761

2010
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR How does voltage open an ion channel? 16704338

2006
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Voltage sensor of Kv1.2: structural basis of electromechanical coupling. 16002579

2005
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The channelopathies: novel insights into molecular and genetic mechanisms of human disease. 16075038

2005
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores. 15694325

2005
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Crystal structure of a mammalian voltage-dependent Shaker family K+ channel. 16002581

2005
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR A proton pore in a potassium channel voltage sensor reveals a focused electric field. 14765197

2004
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The voltage-gated potassium channels and their relatives. 12214225

2002
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation 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
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR The structure of the potassium channel: molecular basis of K+ conduction and selectivity. 9525859

1998
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Contribution of the S4 segment to gating charge in the Shaker K+ channel. 8663993

1996
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Voltage-sensing residues in the S2 and S4 segments of the Shaker K+ channel. 8663992

1996
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 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