Associated Papers
Epilepsy phenotypes and responses to antiseizure medications in pediatric patients with EEF1A2-related epilepsy.
Yun HJ et al.
Brain & Development, 2025
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Paulet A et al.
European Journal of Human Genetics : Ejhg, 2024
Chp1 is a dedicated chaperone at the ribosome that safeguards eEF1A biogenesis.
Minoia M et al.
Nature Communications, 2024
Autism- and epilepsy-associated EEF1A2 mutations lead to translational dysfunction and altered actin bundling.
Mohamed MS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Autism- and epilepsy-associated EEF1A2 mutations lead to translational dysfunction and altered actin bundling.
Mohamed MS et al.
Biorxiv : the Preprint Server for Biology, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Krygier M et al.
Frontiers in Genetics, 2023
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
On the Need to Tell Apart Fraternal Twins eEF1A1 and eEF1A2, and Their Respective Outfits.
Mills A et al.
International Journal of Molecular Sciences, 2021
Structural Cues for Understanding eEF1A2 Moonlighting.
Carriles AA et al.
Chembiochem : a European Journal of Chemical Biology, 2021
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Predicting epileptic encephalopathy using mutation site analysis and in silico algorithms.
Inui T et al.
Epilepsy & Behavior : E&b, 2020
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Carvill GL et al.
Human Mutation, 2020
Recapitulation of the EEF1A2 D252H neurodevelopmental disorder-causing missense mutation in mice reveals a toxic gain of function.
Davies FCJ et al.
Human Molecular Genetics, 2020
EEF1A2 mutations in epileptic encephalopathy/intellectual disability: Understanding the potential mechanism of phenotypic variation.
Long K et al.
Epilepsy & Behavior : E&b, 2020
The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders.
McLachlan F et al.
Human Mutation, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant.
Lance EI et al.
Sage Open Medical Case Reports, 2018
Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.
Cao S et al.
Human Molecular Genetics, 2017
Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice.
Davies FC et al.
Scientific Reports, 2017
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG et al.
Molecular Genetics & Genomic Medicine, 2016
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
Lam WW et al.
Molecular Genetics & Genomic Medicine, 2016
Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations.
Inui T et al.
Brain & Development, 2016
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
Nakajima J et al.
Clinical Genetics, 2015
Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak BJ et al.
Nature Communications, 2014
Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Veeramah KR et al.
Epilepsia, 2013