Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 CausalMutation disease CLINVAR Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. 27457812 2017
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 CausalMutation disease CLINVAR De novo KCNA2 mutations cause hereditary spastic paraplegia. 28032718 2017
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 Biomarker disease GENOMICS_ENGLAND A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892 2016
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 CausalMutation disease CLINVAR Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. 27733563 2016
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 CausalMutation disease CLINVAR A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892 2016
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 Biomarker disease GENOMICS_ENGLAND A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia. 27543892 2016
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 CausalMutation disease CLINVAR De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 CausalMutation disease CLINVAR Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152 2015
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 GeneticVariation disease UNIPROT Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. 25477152 2015
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 GeneticVariation disease UNIPROT De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 GeneticVariation disease CLINVAR
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		0.700 Biomarker disease CTD_human
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.460 GeneticVariation disease BEFREE Here, we reprogrammed human skin fibroblasts from a 13-year-old male patient with developmental and epileptic encephalopathy carrying a point mutation (c.982T>G, p.Leu328Val) in KCNA2 to human induced pluripotent stem cells (iPSCs) (HIHDNEi001-A). 30292882 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.460 GeneticVariation disease BEFREE De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants. 30055040 2018
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.460 GeneticVariation disease BEFREE To report novel clinical manifestations of KCNA2 mutation related epileptic encephalopathy. 28806589 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.460 Biomarker disease BEFREE This observation expands the KCNA2 phenotypic spectrum from EE often associated with chronic ataxia, reflecting the marked variation in severity observed in many ion channel disorders. 27733563 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.460 GeneticVariation disease BEFREE This case expands the genotypic and phenotypic disease spectrum of this genetic form of KCNA2-early onset epileptic encephalopathy. 27117551 2016
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.460 GeneticVariation disease BEFREE Using next-generation sequencing, we identified four different de novo mutations in KCNA2, encoding the potassium channel KV1.2, in six isolated patients with epileptic encephalopathy (one mutation recurred three times independently). 25751627 2015
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.460 Biomarker disease HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.460 Biomarker disease GENOMICS_ENGLAND
CUI: C0036572
Disease: Seizures
Seizures 		0.430 Biomarker phenotype BEFREE The Kv1.1 and Kv1.2 (also known as KCNA1 and KCNA2, respectively) subunits are associated with cell adhesion molecules (CAMs), including Caspr2 (also known as CNTNAP2) and LGI1, which are implicated in autoimmune and genetic neurological diseases with seizures. 30598502 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation phenotype BEFREE Finally, exome sequencing enabled us to characterize a heterozygous de novo missense (p.Val408Ala) in KCNA2 encoding the potassium channel Kv 1.2 in a girl with infantile-onset seizures variant of RTT. 27062609 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.430 Biomarker phenotype CTD_human De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. 25751627 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.430 GeneticVariation phenotype BEFREE This gene, which encodes a member of the potassium channel, voltage-gated, shaker-related subfamily, has not been previously described as a cause of disease in humans, but mutations of the orthologous gene in mice (Kcna2) are known to cause both ataxia and convulsions. 25477152 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.430 Biomarker phenotype HPO