Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Gemma L. Carvill, Katherine L. Helbig, Candace T. Myers, Marcello Scala, Robert Huether, Sara Lewis, Tyler N. Kruer, Brandon S. Guida, Somayeh Bakhtiari, Joy Sebe, Sha Tang, Heather Stickney, Sehribani Ulusoy Oktay, Ashwin A. Bhandiwad, Keri Ramsey, Vinodh Narayanan, Timothy Feyma, Luis O. Rohena, Andrea Accogli, Mariasavina SeverinoGeorgina Hollingsworth, Deepak Gill, Christel Depienne, Caroline Nava, Lynette G. Sadleir, Paul A. Caruso, Angela E. Lin, Floor E. Jansen, Bobby Koeleman, Eva Brilstra, Marjolein H. Willemsen, Tjitske Kleefstra, Joaquim Sa, Marie Laure Mathieu, Laurine Perrin, Gaetan Lesca, Pasquale Striano, Giorgio Casari, Ingrid E. Scheffer, David Raible, Evelyn Sattlegger, Valeria Capra, Sergio Padilla-Lopez, Heather C. Mefford*, Michael C. Kruer*

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology

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