Gene: KCNA2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718

2017
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR Reply. 28019717

2017
dbSNP: rs786205232
rs786205232
KCNA2
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
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 GeneticVariation CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718

2017
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 GeneticVariation CLINVAR Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. 27062609

2017
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 GeneticVariation CLINVAR Reply. 28019717

2017
dbSNP: rs786205232
rs786205232
KCNA2
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
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563

2016
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892

2016
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 GeneticVariation CLINVAR Severe early-onset epileptic encephalopathy due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum. 27117551

2016
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 GeneticVariation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 GeneticVariation CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563

2016
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 GeneticVariation CLINVAR A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892

2016
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152

2015
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 GeneticVariation CLINVAR Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152

2015
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 GeneticVariation CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627

2015
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR A new Kv1.2 channelopathy underlying cerebellar ataxia. 20696761

2010
dbSNP: rs786205232
rs786205232
KCNA2
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
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 GeneticVariation CLINVAR A new Kv1.2 channelopathy underlying cerebellar ataxia. 20696761

2010
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 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
dbSNP: rs786205232
rs786205232
KCNA2
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
dbSNP: rs886041761
rs886041761
KCNA2
T 0.700 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
dbSNP: rs786205232
rs786205232
KCNA2
T 0.700 CausalMutation CLINVAR How does voltage open an ion channel? 16704338

2006