Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis
Authors: Renzo Guerrini; Davide Mei; Katalin Kerti-Szigeti; Sara Pepe; Mary Kay Koenig; Gretchen Von Allmen; Megan T. Cho; Kimberly McDonald; Janice A. Baker; Vikas Bhambhani; Zöe Powis; Lance H. Rodan; Rima Nabbout; Giulia Barcia; Jill A. Rosenfeld; Carlos A. Bacino; Cyril Mignot; Lillian H Power; Catharine J Harris; Dragan Marjanovic; Rikke S Møller; Trine Bjørg Hammer; Riikka Keski Filppula; Päivi Vieira; Clara Hildebrandt; Stephanie Sacharow; Luca Maragliano; Fabio Benfenati; Katherine Lachlan; Andreas Benneche; Florence Petit; Jean Madeleine de Sainte Agathe; Barbara Hallinan; Yue Cindy Si; Ingrid M. Wentzensen; Fanggeng Zou; Vinodh Narayanan; Naomichi Matsumoto; Alessandra Boncristiano; Giancarlo la Marca; Mitsuhiro Kato; Kristin Anderson; Carmen Barba; Luisa Sturiale; Domenico Garozzo; Roberto Bei; Laura Masuelli; Valerio Conti; Gaia Novarino; Anna Fassio
Collaborators: Baylor College of Medicine; Boston Children's Hospital; CHU Lille; GeneDx; Harvard Medical School; Haukeland University Hospital; Hôpital Necker-Enfants Malades; Institute for Polymers, Composites and Biomaterials; Institute of Science and Technology Austria; IRCCS Ospedale Policlinico San Martino; Istituto Italiano di Tecnologia; Linköping University; Meyer Children's University Hospital; Polytechnic University of Marche; Queen Mary University of London; Showa University Hospital; Sorbonne Universités, Paris, France; The University of Texas; Translational Genomics Research Institute; University Hospital of Hvidovre; University of Cincinnati College of Medicine; University of Florence; University of Genoa; University of Iowa Stead Family Children's Hospital; University of Mississippi Medical Center; University of Missouri Medical Center; University of Oulu; University of Rome 'Sapienza'; University of Rome 'Tor Vergata'; University of Southern Denmark; Yokohama City University Graduate School of Medicine