BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy. - De Pace R; Gonzalez CD; Williamson CD; Helman G; Sanderson LE; Disanza B; Hsiao-Sánchez N; Pizzino A; Muirhead K; Bonkowsky JL; Taft RJ; Sannaa NA; et al. (MedRxiv : the preprint server for health sciences, 2025)