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

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Date: July 11, 2023
Authors:
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 MD, Timothy J. Feyma, Luis Rohena, Andrea Accogli, Mariasavina Severino, Georgina 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
Journal: Human Mutation
Journal Volume: 41