ArticleScientific reports2017
Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- Overcoming the challenges of genome-editing essential genes.STAR protocols · 2026Review
- The Multifaceted Roles of Eukaryotic Elongation Factor 1-Alpha-2 in Neurodevelopmental and Neurodegenerative Disorders.TheScientificWorldJournal · 2026Review
- Dysregulated mRNA Translation in Alzheimer's Disease: Mechanisms, Therapeutic Opportunities, and Challenges for Clinical Translation.Clinical interventions in aging · 2026Review
- Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2-related neurodevelopmental disorder.Disease models & mechanisms · 2024Article
- eEF1A2 promotes PTEN-GSK3β-SCF complex-dependent degradation of Aurora kinase A and is inactivated in breast cancer.Science signaling · 2024Article
- Correspondence of Yolk Sac and Embryonic Genotypes in F0 Mouse CRISPants.Medical research archives · 2023Article
- eEF2 in the prefrontal cortex promotes excitatory synaptic transmission and social novelty behavior.EMBO reports · 2022Article
- The role of altered translation in intellectual disability and epilepsy.Progress in neurobiology · 2022Review
- On the Need to Tell Apart Fraternal Twins eEF1A1 and eEF1A2, and Their Respective Outfits.International journal of molecular sciences · 2021Review
- Safety assessment of metarrestin in dogs: A clinical candidate targeting a subnuclear structure unique to metastatic cancer cells.Regulatory toxicology and pharmacology : RTP · 2020Article
- Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.Human mutation · 2020Article
- Translation elongation factor 1A2 is encoded by one of four closely related eef1a genes and is dispensable for survival in zebrafish.Bioscience reports · 2020Article
- Downregulation of eEF1A/EFT3-4 Enhances Dopaminergic Neurodegeneration After 6-OHDA Exposure inFrontiers in neuroscience · 2020Article
- Production of a mutant of large-scale loach Paramisgurnus dabryanus with skin pigmentation loss by genome editing with CRISPR/Cas9 system.Transgenic research · 2019Article
- Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant.SAGE open medical case reports · 2018Article
- Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.Human molecular genetics · 2017Article
- Phenotyping first-generation genome editing mutants: a new standard?Mammalian genome : official journal of the International Mammalian Genome Society · 2017Review
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
De novo heterozygous missense mutations in the gene encoding translation elongation factor eEF1A2 have recently been found to give rise to neurodevelopmental disorders. Children with mutations in this gene have developmental delay, epilepsy, intellectual disability and often autism; the most frequently occurring mutation is G70S. It has been known for many years that complete loss of eEF1A2 in mice causes motor neuron degeneration and early death; on the other hand heterozygous null mice are apparently normal. We have used CRISPR/Cas9 gene editing in the mouse to mutate the gene encoding eEF1A2, obtaining a high frequency of biallelic mutations. Whilst many of the resulting founder (F0) mice developed motor neuron degeneration, others displayed phenotypes consistent with a severe neurodevelopmental disorder, including sudden unexplained deaths and audiogenic seizures. The presence of G70S protein was not sufficient to protect mice from neurodegeneration in G70S/- mice, showing that the mutant protein is essentially non-functional.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.