Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review

Syntaxin-binding protein1 (STXBP1) is a member of the Sec1/Munc18-1 protein family, which comprises important regulators of the secretory and synaptic vesicle fusion machinery underlying hormonal and neuronal transmission, respectively. STXBP1 pathogenic variants are associated with multiple neurolo...

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Detalles Bibliográficos
Autores principales: Takeda, Kanako, Miyamoto, Yusaku, Yamamoto, Hisako, Iwasaki, Toshiyuki, Sumitomo, Noriko, Takeshita, Eri, Ishii, Atsushi, Hirose, Shinichi, Shimizu, Naoki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589999/
https://www.ncbi.nlm.nih.gov/pubmed/36278550
http://dx.doi.org/10.3390/pediatric14040046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589999/
https://www.ncbi.nlm.nih.gov/pubmed/36278550
http://dx.doi.org/10.3390/pediatric14040046

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