Associated Papers
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
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
[Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation: a case report].
He HL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY et al.
Jama Network Open, 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
Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.
Zou D et al.
Brain : a Journal of Neurology, 2021
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
Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review.
De Rinaldis M et al.
Brain & Development, 2020
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A 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
Regulation of mRNA Translation in Neurons-A Matter of Life and Death.
Kapur M et al.
Neuron, 2017
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
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