|
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 |
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 |
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 |
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 |
GeneticVariation
|
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 |
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
|
24697219 |
2015 |
|
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 |
GeneticVariation
|
disease |
UNIPROT |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |
|
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 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
|
24697219 |
2015 |
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Epilepsy
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
We described a new case, a boy with severe intellectual disability with absent speech, autistic spectrum disorder, mild dysmorphic facial features, failure to thrive and epilepsy associated to a de novo heterozygous missense mutation in EEF1A2 (c.364G>A; p.Glu122Lys) identified by next generation sequencing; it was already reported in other studies.
|
31477274 |
2020 |
|
Neurodevelopmental Disorders
|
0.330 |
Biomarker
|
group |
BEFREE |
Mutations in the elongation factor 1 alpha 2 (EEF1A2) gene have been recently shown to cause epileptic encephalopathy (MIM # 616409 EIEE33) associated with neurodevelopmental disorders such as intellectual disability, autistic spectrum disorder, hypotonia and dysmorphic facial features.
|
31477274 |
2020 |
|
Epilepsy
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in the gene encoding eEF1A2, EEF1A2, have recently been shown to cause epilepsy, autism, and intellectual disability.
|
30370994 |
2019 |
|
Epilepsy
|
0.330 |
Biomarker
|
disease |
CTD_human |
De novo variants in neurodevelopmental disorders with epilepsy.
|
29942082 |
2018 |
|
Neurodevelopmental Disorders
|
0.330 |
Biomarker
|
group |
CTD_human |
De novo variants in neurodevelopmental disorders with epilepsy.
|
29942082 |
2018 |
|
Neurodevelopmental Disorders
|
0.330 |
Biomarker
|
group |
BEFREE |
De novo heterozygous missense mutations in the gene encoding translation elongation factor eEF1A2 have recently been found to give rise to neurodevelopmental disorders.
|
28378778 |
2017 |
|
Neurodevelopmental Disorders
|
0.330 |
GeneticVariation
|
group |
BEFREE |
Variants in genes previously implicated in neurodevelopmental disorders (NDD) were identified in six patients (32%): de novo variants in EEF1A2, STXBP1 and ZNF238 were found in three patients, maternally inherited X linked variants in SLC35A2, ZFX and SHROOM4 were detected in two male patients and one homozygous variant in EIF2B2 was detected in one patient.
|
26740508 |
2016 |
|
Epilepsy
|
0.330 |
GeneticVariation
|
disease |
BEFREE |
Four probands had de novo mutations in genes previously shown to harbor heterozygous mutations in patients with severe, early onset epilepsies (two in SCN1A, and one each in CDKL5 and EEF1A2).
|
23647072 |
2013 |