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ATP6V1B2-related disorders featuring Lennox-Gastaut-syndrome: A case-based overview.
Amore, Greta; Calì, Elisa; Spanò, Maria; Ceravolo, Giorgia; Mangano, Giuseppe Donato; Scorrano, Giovanna; Efthymiou, Stephanie; Salpietro, Vincenzo; Houlden, Henry; Di Rosa, Gabriella.
Afiliação
  • Amore G; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom; Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
  • Calì E; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom.
  • Spanò M; Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
  • Ceravolo G; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom; Unit of Emergency Pediatrics, Department of Human Pathology and Evolutive Age "Gaetano Barresi", University of Messina, Via C. Valeria 1, 98125 Messina, Italy.
  • Mangano GD; Department of Biomedicine, Neuroscience and Advanced Diagnostics (BiND), Human Anatomy Section, Via del Vespro 129, 90127 Palermo, Italy.
  • Scorrano G; Department of Pediatrics "G. D'Annunzio", University of Chieti-Pescara, Chieti, Italy.
  • Efthymiou S; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom.
  • Salpietro V; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom; Department of Pediatrics, University of L'Aquila, 67100 L'Aquila, Italy.
  • Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom.
  • Di Rosa G; Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", University of Messina, Via C. Valeria 1, 98125 Messina, Italy. Electronic address: gabriella.dirosa@unime.it.
Brain Dev ; 45(10): 588-596, 2023 Nov.
Article em En | MEDLINE | ID: mdl-37633739
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Limite: Adolescent / Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article