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

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