Associated Papers
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
Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2-related neurodevelopmental disorder.
Marshall GF et al.
Disease Models & Mechanisms, 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
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
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 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
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
The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders.
McLachlan F et al.
Human Mutation, 2019
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
Efficient and versatile CRISPR engineering of human neurons in culture to model neurological disorders.
Shah RR et al.
Wellcome Open Research, 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