ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview

ATP6V1B2 (ATPase, H+ transporting, lysosomal VI subunit B, isoform 2) encodes for a subunit of a ubiquitous transmembrane lysosomal proton pump, implicated in the acidification of intracellular organelles and in several additional cellular functions. Variants in ATP6V1B2 have been related to a heterogeneous group of multisystemic disorders sometimes associated with variable neurological involvement. However, our knowledge of genotype-phenotype correlations and the neurological spectrum of ATP6V1B2-related disorders remain limited due to the few numbers of reported cases.

Source: Brain and Development - August 24, 2023 Category: Neurology Authors: Greta Amore, Elisa Cal ì, Maria Spanò, Giorgia Ceravolo, Giuseppe Donato Mangano, Giovanna Scorrano, Stephanie Efthymiou, Vincenzo Salpietro, Henry Houlden, Gabriella Di Rosa Tags: Case Report Source Type: research