Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis

Alessandra Boncristiano, Andreas Benneche, Anna Fassio, Barbara Hallinan, Carlos A. Bacino, Carmen Barba, Catharine J Harris, Clara Hildebrandt, Cyril Mignot, Davide Mei, Domenico Garozzo, Dragan Marjanovic, Fabio Benfenati, Fanggeng Zou, Florence Petit, Gaia Novarino, Giancarlo la Marca, Giulia Barcia, Gretchen Von Allmen, Ingrid M. Wentzensen, Janice A. Baker, Jean-Madeleine de Sainte Agathe, Jill A. Rosenfeld, Katalin Kerti-Szigeti, Katherine Lachlan, Kimberly McDonald, Kristin Anderson, Lance H. Rodan, Laura Masuelli, Lillian H Power, Luca Maragliano, Luisa Sturiale, Mary Kay Koenig, Megan T. Cho, Mitsuhiro Kato, Naomichi Matsumoto, Päivi Vieira, Renzo Guerrini, Riikka Keski Filppula, Rikke S. Møller, Rima Nabbout, Roberto Bei, Sara Pepe, Stephanie Sacharow, Trine Bjørg Hammer, Valerio Conti, Vikas Bhambhani, Vinodh Narayanan MD, Yue Cindy Si, Zöe Powis