STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy

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...

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Detalles Bibliográficos
Autores principales: Vinci, Mirella, Costanza, Carola, Galati Rando, Rosanna, Treccarichi, Simone, Saccone, Salvatore, Carotenuto, Marco, Roccella, Michele, Calì, Francesco, Elia, Maurizio, Vetri, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10670990/
https://www.ncbi.nlm.nih.gov/pubmed/38003627
http://dx.doi.org/10.3390/ijms242216436

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