Amore, Greta;
Calì, Elisa;
Spanò, Maria;
Ceravolo, Giorgia;
Mangano, Giuseppe Donato;
Scorrano, Giovanna;
Efthymiou, Stephanie;
... Di Rosa, Gabriella; + view all
(2023)
ATP6V1B2-related disorders featuring Lennox-Gastaut-Syndrome: A case-based overview.
Brain and Development
, 45
(10)
pp. 588-596.
10.1016/j.braindev.2023.07.004.
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Abstract
Background: 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. // Case study: We hereby report the case of an 18-year-old male Sicilian patient affected by a global developmental delay, skeletal abnormalities, and epileptic encephalopathy featuring Lennox-Gastaut syndrome (LGS), in which exome sequencing led to the identification of a novel de novo variant in ATP6V1B2 (NM_001693.4: c.973G > C, p.Gly325Arg). // Conclusions: Our report provides new insights on the inclusion of developmental epileptic encephalopathies (DEEs) within the continuum group of ATP6V1B2-related disorders, expanding the phenotypic and molecular spectrum associated with these conditions.
| Type: | Article |
|---|---|
| Title: | ATP6V1B2-related disorders featuring Lennox-Gastaut-Syndrome: A case-based overview |
| Location: | Netherlands |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.braindev.2023.07.004 |
| Publisher version: | https://doi.org/10.1016/j.braindev.2023.07.004 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | ATP6V1B2; ATP6V1B2-related disorders; Deafness-onycodystrophy-osteodystrophy-mental retardation-seizures; Developmental epileptic encephalopathy; Dominant deafness-onycodystrophy; Lennox-Gastaut syndrome; Zimmermann-Laband syndrome 2 |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10178135 |
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