PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum
Authors: Katrine M Johannesen; Elena Gardella; Cathrine E Gjerulfsen; Allan Bayat; Rob P W Rouhl; Margot Reijnders; Sandra Whalen; Boris Keren; Julien Buratti; Thomas Courtin; Klaas J Wierenga; Bertrand Isidor; Amélie Piton; Laurence Faivre; Aurore Garde; Sébastien Moutton; Frédéric Tran-Mau-Them; Anne-Sophie Denommé-Pichon; Christine Coubes; Austin Larson; Michael J Esser; Juan Pablo Appendino; Walla Al-Hertani; Beatriz Gamboni; Alejandra Mampel; Lía Mayorga; Alessandro Orsini; Alice Bonuccelli; Agnese Suppiej; Julien Van-Gils; Julie Vogt; Simona Damioli; Lucio Giordano; Stephanie Moortgat; Elaine Wirrell; Sarah Hicks; Usha Kini; Nathan Noble; Helen Stewart; Shailesh Asakar; Julie S Cohen; SakkuBai R Naidu; Ashley Collier; Eva H Brilstra; Mindy H Li; Casey Brew; Stefania Bigoni; Davide Ognibene; Elisa Ballardini; Lynn Greenhalgh; Claudia Ruivenkamp; Raffaella Faggioli; Alexandra Afenjar; Diana Rodriguez; David Bick; Devorah Segal; David Coman; Boudewijn Gunning; Orrin Devinsky; Laurie A Demmer; Theresa Grebe; Dario Pruna; Ida Cursio; Claudio Graziano; Rahul Raman Singh; Gaetano Cantalupo; Marjolaine Willems; Sangeetha Yoganathan; Fernanda Góes; Richard J Leventer; Davide Colavito; Sara Olivotto; Barbara Scelsa; Andrea V Andrade; Kelly Ratke; Farha Tokarz; Atiya S Khan; Clothilde Ormieres; William Benko; Karen Keough; Sotirios Keros; Shanawaz Hussain; Ashlea Franques; Felicia Varsalone; Sabine Grønborg; Cyril Mignot; Delphine Heron; Caroline Nava; Arnaud Isapof; Felippe Borlot; Robyn Whitney; Anne Ronan; Nicola Foulds; Marta Somorai; John Brandsema; Katherine L Helbig; Ingo Helbig; Xilma R Ortiz-González; Holly Dubbs; Antonio Vitobello; Mel Anderson; Dominic Spadafore; David Hunt; Rikke S Møller; Guido Rubboli
Collaborators: Arizona Oncology; Azienda Ospedaliera Universitaria Senese; Birmingham Women's and Children's NHS Foundation Trust; Boston Children's Hospital; Centre Hospitalier Universitaire de Bordeaux; Children's Hospital of Philadelphia; CHU Dijon Bourgogne; CHU Montpellier; CHU Nantes, Service de Génétique Médicale, Nantes, France; Ferrara University; Guy's and St Thomas' NHS Foundation Trust; Harvard Medical School; Hôpital Necker-Enfants Malades; HudsonAlpha Institute for Biotechnology; Johns Hopkins University School of Medicine; Kennedy Krieger Institute; Leiden University Medical Center; Liverpool Women's Hospital; Maastricht University Medical Center; Mayo Clinic; NYU School of Medicine; Oxford Medical Genetics Laboratories; Perelman School of Medicine at the University of Pennsylvania; Phoenix Children's Hospital; Princess Anne Hospital; Queensland Health; Sorbonne Universités, Paris, France; The Danish Epilepsy Centre; The Hospital for Sick Children, The University of Toronto; The Royal Children's Hospital; The University of Texas MD Anderson Cancer Center; University Medical Center Utrecht; University of Bourgogne; University of Brescia; University of Calgary; University of Colorado Anschutz; University of Colorado School of Medicine; University of Southern Denmark; University of Verona; V. Buzzi Children's Hospital; Weill Cornell