EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
|
27441201 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.
|
28911200 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
|
23647072 |
2013 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.
|
30109124 |
2018 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
|
27441201 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations.
|
26682508 |
2016 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice.
|
28378778 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.
|
28911200 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in elongation factor EF-1 alpha affect the frequency of frameshifting and amino acid misincorporation in Saccharomyces cerevisiae.
|
3066688 |
1988 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
|
24697219 |
2015 |