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Paper Details

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Am J Hum Genet
4
2023
-type, 5', ATP, ATP-dependent RNA helicase, DEAD-box protein family, Drosophila melanogaster, EIF4A2, EIF4A2 variant cDNAs, EIF4A2 variants, Eukaryotic initiation factor-4A2, Neurodegeneration, WT) cDNA, behavioral and developmental defects, bi-allelic variants, decapentaplegic, dpp, eIF4A, epilepsy, fruit fly, genetic neurodevelopmental syndrome, global developmental delay, human, human EIF4A2 wild, hypotonia, intellectual disability, mRNA, mRNAs, mono-allelic variants, neurodevelopmental disorder, pupal lethality, structural brain anomalies
Author NameAffiliation
Casie A GenettiBoston Children's Hospital and Harvard Medical School, USA The Manton Center for Orphan Disease Research
Patricia Ellen GrantBoston Children's Hospital and Harvard Medical School, Boston Children's Hospital
Russell P SanetoNeuroscience Institute, Center for Integrative Brain Research, Departments of Pediatric Neurology and Neurology Seattle Children's Hospital, University of Washington
Giuseppe ZampinoCenter for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario A. Gemelli, Italy Catholic University of the Sacred Heart
Sofia DouzgouUniversity of Manchester, Haukeland University Hospital
Siddharth BankaUniversity of Manchester, St Mary's Hospital, Manchester University NHS Foundation Trust
Pankaj B AgrawalBoston Children's Hospital and Harvard Medical School, USA The Manton Center for Orphan Disease Research
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