Associated Papers
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
40993358 (PubMed )
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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
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
EEF1A2 mutations in epileptic encephalopathy/intellectual disability: Understanding the potential mechanism of phenotypic variation.
Long K et al.
Epilepsy & Behavior : E&b, 2020
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
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