Publication
Damaging de novo missense variants inEEF1A2lead 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 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
Human Mutation, April 2020, Hindawi Publishing Corporation
DOI: 10.1002/humu.24015