Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission

Heterozygous mutations in the STXBP1 gene encoding the presynaptic protein MUNC18-1 cause STXBP1 encephalopathy, characterized by developmental delay, intellectual disability and epilepsy. Impaired mutant protein stability leading to reduced synaptic transmission is considered the main underlying pa...

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Detalles Bibliográficos
Autores principales: Lammertse, Hanna C A, van Berkel, Annemiek A, Iacomino, Michele, Toonen, Ruud F, Striano, Pasquale, Gambardella, Antonio, Verhage, Matthijs, Zara, Federico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7009479/
https://www.ncbi.nlm.nih.gov/pubmed/31855252
http://dx.doi.org/10.1093/brain/awz391

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