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

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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Bibliographic Details
Main Authors: Mirella Vinci, Carola Costanza, Rosanna Galati Rando, Simone Treccarichi, Salvatore Saccone, Marco Carotenuto, Michele Roccella, Francesco Calì, Maurizio Elia, Luigi Vetri
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:International Journal of Molecular Sciences
Subjects:
<i>STXBP6</i> gene
epilepsy
next-generation sequencing
SNAP25
amysin
Online Access:https://www.mdpi.com/1422-0067/24/22/16436

Internet

https://www.mdpi.com/1422-0067/24/22/16436

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