Litcius/Paper detail

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

Maimuna S. Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, P. Ellen Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti‐Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P. Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein Tobias B. Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphaël Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V. Mullegama, Timothy Blake Palculict, Daniel G. Calame, Katharina Schwan, Alicia R. P. Aycinena, Rasa Traberg, Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao‐Tuan Chao, Pankaj B. Agrawal

2023The American Journal of Human Genetics10 citationsDOIOpen Access PDF

Topics & Concepts

HypotoniaIntellectual disabilityEpilepsyGeneticsAlleleAngelman syndromeMedicineNeuroscienceBiologyPsychologyPsychiatryGeneGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersProtein Degradation and Inhibitors