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

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 MD, 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