×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.700
Biomarker
GENOMICS_ENGLAND
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
27543892
2016
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.700
Biomarker
GENOMICS_ENGLAND
A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.
27543892
2016
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.700
GeneticVariation
UNIPROT
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
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.700
GeneticVariation
UNIPROT
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
0.700
Biomarker
CTD_human
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Epileptic encephalopathy
0.460
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Seizures
0.430
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Intellectual Disability
0.400
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Tonic - clonic seizures
0.310
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Convulsions
0.310
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Diaphragmatic Hernia
0.300
Biomarker
CTD_human
Decreased expression of voltage-gated K+ channels in pulmonary artery smooth muscles cells in nitrofen-induced congenital diaphragmatic hernia in rats.
15088113
2004
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Profound Mental Retardation
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Jacksonian Seizure
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Language Delay
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Language Development Disorders
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Mental Retardation, Psychosocial
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Complex partial seizures
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Generalized seizures
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Clonic Seizures
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Speech Delay
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Visual seizure
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Tonic Seizures
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Epileptic drop attack
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Seizures, Somatosensory
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015
×
Entrez Id:
3737
Gene Symbol:
KCNA2
KCNA2
Seizures, Auditory
0.300
Biomarker
CTD_human
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
25751627
2015