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Article

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

International journal of molecular sciences - 17 Nov 2023

Vinci Mirella, Costanza Carola, Galati Rando Rosanna, Treccarichi Simone, Saccone Salvatore, Carotenuto Marco, Roccella Michele, Calì Francesco, Elia Maurizio, Vetri Luigi

Abstract excerpt

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...

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Identifiers

PMID: 38003627
DOI: 10.3390/ijms242216436
PMCID: PMC10670990

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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