Associated Papers
Global developmental delay: comparison of developmental profiles between gene-positive/suspicious positive and gene-negative cases.
Shan L et al.
Pediatric Research, 2025
Epilepsy phenotypes and responses to antiseizure medications in pediatric patients with EEF1A2-related epilepsy.
Yun HJ et al.
Brain & Development, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 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
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
Chp1 is a dedicated chaperone at the ribosome that safeguards eEF1A biogenesis.
Minoia M et al.
Nature Communications, 2024
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 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
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.
Carvill GL et al.
Human Mutation, 2020
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient.
Kaur S et al.
Clinical Case Reports, 2019
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.
Wright CF et al.
Nature Communications, 2019
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
Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability.
Lam WW et al.
Molecular Genetics & Genomic Medicine, 2016