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STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy.
Vinci, Mirella; Costanza, Carola; Galati Rando, Rosanna; Treccarichi, Simone; Saccone, Salvatore; Carotenuto, Marco; Roccella, Michele; Calì, Francesco; Elia, Maurizio; Vetri, Luigi.
Afiliación
  • Vinci M; Oasi Research Institute-IRCCS, 94018 Troina, Italy.
  • Costanza C; Department of Psychology, Educational Science and Human Movement, University of Palermo, 90141 Palermo, Italy.
  • Galati Rando R; Oasi Research Institute-IRCCS, 94018 Troina, Italy.
  • Treccarichi S; Oasi Research Institute-IRCCS, 94018 Troina, Italy.
  • Saccone S; Department Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy.
  • Carotenuto M; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania "Luigi Vanvitelli", 80131 Naples, Italy.
  • Roccella M; Department of Psychology, Educational Science and Human Movement, University of Palermo, 90141 Palermo, Italy.
  • Calì F; Oasi Research Institute-IRCCS, 94018 Troina, Italy.
  • Elia M; Oasi Research Institute-IRCCS, 94018 Troina, Italy.
  • Vetri L; Oasi Research Institute-IRCCS, 94018 Troina, Italy.
Int J Mol Sci ; 24(22)2023 Nov 17.
Article en En | MEDLINE | ID: mdl-38003627
Syntaxin-binding protein 6 (STXBP6), also known as amysin, is an essential component of the SNAP receptor (SNARE) complex and plays a crucial role in neuronal vesicle trafficking. Mutations in genes encoding SNARE proteins are often associated with a broad spectrum of neurological conditions defined as "SNAREopathies", including epilepsy, intellectual disability, and neurodevelopmental disorders such as autism spectrum disorders. The present whole exome sequencing (WES) study describes, for the first time, the occurrence of developmental epileptic encephalopathy and autism spectrum disorders as a result of a de novo deletion within the STXBP6 gene. The truncated protein in the STXBP6 gene leading to a premature stop codon could negatively modulate the synaptic vesicles' exocytosis. Our research aimed to elucidate a plausible, robust correlation between STXBP6 gene deletion and the manifestation of developmental epileptic encephalopathy.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Epilepsia / Trastornos del Neurodesarrollo Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsia Generalizada / Epilepsia / Trastornos del Neurodesarrollo Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza