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 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De novo KCNA2 mutations cause hereditary spastic paraplegia.
|
28032718 |
2017 |
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 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
|
27733563 |
2016 |
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 |
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 |
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 |
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 |
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 |
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 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
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 |
Epileptic encephalopathy
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
To report novel clinical manifestations of KCNA2 mutation related epileptic encephalopathy.
|
28806589 |
2017 |
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 |
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 |
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 |
Epileptic encephalopathy
|
0.460 |
Biomarker
|
disease |
HPO |
|
|
|
Epileptic encephalopathy
|
0.460 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
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 |
Seizures
|
0.430 |
Biomarker
|
phenotype |
CTD_human |
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.
|
25751627 |
2015 |
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 |
Seizures
|
0.430 |
Biomarker
|
phenotype |
HPO |
|
|
|