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Functional analysis of epilepsy‐associated variants in STXBP1/Munc18‐1 using humanized Caenorhabditis elegans

OBJECTIVE: Genetic variants in STXBP1, which encodes the conserved exocytosis protein Munc18‐1, are associated with a variety of infantile epilepsy syndromes. We aimed to develop an in vivo Caenorhabditis elegans model that could be used to test the pathogenicity of such variants in a cost‐effective...

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Detalles Bibliográficos
Autores principales:	Zhu, Bangfu, Mak, Jennifer C. H., Morris, Andrew P., Marson, Anthony G., Barclay, Jeff W., Sills, Graeme J., Morgan, Alan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Full‐length Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8614121/ https://www.ncbi.nlm.nih.gov/pubmed/32112430 http://dx.doi.org/10.1111/epi.16464

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