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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Reply. 28019717

2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718

2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Reply. 28019717

2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718

2017
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563

2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563

2016
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation CLINVAR A new Kv1.2 channelopathy underlying cerebellar ataxia. 20696761

2010
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR A new Kv1.2 channelopathy underlying cerebellar ataxia. 20696761

2010
Entrez Id: 3737
Gene Symbol: KCNA2
KCNA2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation 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: C0026650
Disease: Movement Disorders
Movement Disorders 		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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation CLINVAR How does voltage open an ion channel? 16704338

2006