rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
T |
0.800 |
CausalMutation |
CLINVAR |
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
|
27733563 |
2016 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
T |
0.800 |
CausalMutation |
CLINVAR |
Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.
|
25477152 |
2015 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
T |
0.800 |
CausalMutation |
CLINVAR |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
|
25751627 |
2015 |
rs876657389
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
A |
0.800 |
CausalMutation |
CLINVAR |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
|
25751627 |
2015 |
rs876657389
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
|
25751627 |
2015 |
rs876657389
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.
|
25477152 |
2015 |
rs876657390
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
|
25751627 |
2015 |
rs876657390
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
|
0.800 |
GeneticVariation |
UNIPROT |
Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.
|
25477152 |
2015 |
rs786205231
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs786205231
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs876657390
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs763353895
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
A |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
|
27457812 |
2017 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
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 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo KCNA2 mutations cause hereditary spastic paraplegia.
|
28032718 |
2017 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo KCNA2 mutations cause hereditary spastic paraplegia.
|
28032718 |
2017 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Muscle hypotonia
|
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 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Reply.
|
28019717 |
2017 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Reply.
|
28019717 |
2017 |
rs886041761
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
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 |
rs886041761
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Reply.
|
28019717 |
2017 |
rs886041761
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo KCNA2 mutations cause hereditary spastic paraplegia.
|
28032718 |
2017 |
rs886041761
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
GeneticVariation |
CLINVAR |
De novo KCNA2 mutations cause hereditary spastic paraplegia.
|
28032718 |
2017 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Movement Disorders
|
T |
0.700 |
CausalMutation |
CLINVAR |
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
|
27733563 |
2016 |
rs786205232
|
Entrez Id: |
3737 |
Gene Symbol: |
KCNA2 |
KCNA2
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
|
27733563 |
2016 |