Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
Authors: Claudia Cuccurullo; Emanuele Cerulli Irelli; Lorenzo Ugga; Antonella Riva; Alessandra D'Amico; Sara Cabet; Gaetan Lesca; Leonilda Bilo; Federico Zara; Catrinel Iliescu; Diana Barca; France Fung; Katherine Helbig; Xilma Ortiz-Gonzalez; Helenius J Schelhaas; Marjolein H Willemsen; Inge van der Linden; Laura Canafoglia; Carolina Courage; Samuele Gommaraschi; Pedro Gonzalez-Alegre; Tanya Bardakjian; Steffen Syrbe; Elisabeth Schuler; Johannes R Lemke; Stella Vari; Gitte Roende; Mads Bak; Mahbulul Huq; Zoe Powis; Katrine M Johannesen; Trine Bjørg Hammer; Rikke S Møller; Rachel Rabin; John Pappas; Mary L Zupanc; Neda Zadeh; Julie Cohen; Sakkubai Naidu; Ilona Krey; Russell Saneto; Jenny Thies; Laura Licchetta; Paolo Tinuper; Francesca Bisulli; Raffaella Minardi; Allan Bayat; Nathalie Villeneuve; Florence Molinari; Birk Moller; Marie Le Roux; Clara Houdayer; Marilena Vecchi; Isabella Mammi; Elena Fiorini; Jacopo Proietti; Sofia Ferri; Gaetano Cantalupo; Domenica Immacolata Battaglia; Maria Luigia Gambardella; Ilaria Contaldo; Claudia Brogna; Marina Trivisano; Angela De Dominicis; Stefania Maria Bova; Elena Gardella; Pasquale Striano; Antonietta Coppola
Collaborators: "Carol Davila" University of Medicine and Pharmacy; "Prof. Dr. Alex. Obregia" Clinical Hospital; Bambino Gesu Children's Hospital; Baylor College of Medicine; Canterbury District Health Board; Children's Hospital of Orange County, CA (CHOC); Children's Hospital of Philadelphia; CHU d'Angers; Department of Radiology, "Tortorella" private hospital, Salerno, Italy; Epilepsy Center Kempenhaeghe; Federico II University of Naples; Folkhälsan Research Center; Fondazione IRCCS Istituto Neurologio Carlo Besta; Fondazione Policlinico Universitario A. Gemelli IRCCS; Guy's and St Thomas' NHS Foundation Trust; Heidelberg University Hospital; Hospices Civils de Lyon; Hospital Edgardo Rebagliati Martins; Human Genetics Department, Radboud University Medical Center; Indiana University School of Medicine; Instituto Nacional de Ciencias Neurologicas, Lima; Instituto Nacional de Salud del Niño-San Borja; IRCCS Istituto Giannina Gaslini; IRCCS, Istituto Delle Scienze Neurologiche di Bologna; Johns Hopkins University School of Medicine; Karmanos Cancer Institute, Wayne State University; Kennedy Krieger Institute; King's College London; Max Planck Institute for Molecular GeneticsIhnestr; Mirano Hospital; Nicklaus Children's Hospital; NYU Grossman School of Medicine; Ospedale del Mare Hospital; Padrino Children's Foundation; Point Loma Pediatrics; Politecnico di Torino; Rare Disease Ghana Initiative; Sanford USD Medical Center; Seattle Children's Research Institute; South Miami Hospital; The Danish Epilepsy Centre; Timone Hospital; Universita Cattolica del Sacro Cuore; Université Claude Bernard Lyon 1; Universite de Kinshasa; University Hospital Rigshopitalet; University of Cologne; University of Genoa; University of Leipzig Hospitals and Clinics; University of Milan; University of Padua; University of Pavia; University of Pennsylvania; University of Rome 'Sapienza'; University of Southern California; University of Southern Denmark; University of Tennessee Health Science Center; University of Verona; University of Washington; V. Buzzi Children's Hospital