Associated Papers
A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing.
Chourasia N et al.
Pediatric Neurology, 2024
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S1.xlsx › Sheet1
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
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
Successful treatment of choreo-athetotic movements in a patient with an EEF1A2 gene variant.
Lance EI et al.
Sage Open Medical Case Reports, 2018
Identification of novel genetic causes of Rett syndrome-like phenotypes.
Lopes F et al.
Journal of Medical Genetics, 2016
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