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

Guerrini et al. describe the phenotypic spectrum of 26 patients harbouring 20 distinct pathogenic de novo missense variants in ATP6V1A, and show that the underlying pathology includes abnormal endo-lysosomal acidification and ultrastructural hallmarks of lysosomal storage disease.