Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
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; 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
Collaborators: Center for Genetic Medicine, Northwestern University; Centro Hospitalar e Universitário de Coimbra; Children's Hospital at Westmead; Children's Hospital of Philadelphia; Femme Mère Enfant Hospital; Gillette Children's Specialty Healthcare; Harvard Medical School; Hospices Civils de Lyon; Human Genetics Department, Radboud University Medical Center; IRCCS Istituto Giannina Gaslini; IRCCS Ospedale Policlinico San Martino; Massey University; Phoenix Children's Hospital; San Antonio Military Medical Center; The University of Texas; Translational Genomics Research Institute; Università degli Studi di Genova; Université Claude Bernard Lyon 1; University Medical Center Utrecht; University of Arizona, Phoenix, AZ; University of Melbourne; University of Otago Wellington; University of Washington