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Article

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

Epilepsia - 1 Apr 2020

Zhu Bangfu, Mak Jennifer C H, Morris Andrew P, Marson Anthony G, Barclay Jeff W, Sills Graeme J, Morgan Alan

Abstract excerpt

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 manner. METHODS: The CRISPR/Cas9 method was used to introduce a null mutation into the unc-18 gene (the C. elegans...

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Animals, Genetically Modified
Caenorhabditis elegans
Caenorhabditis elegans Proteins
Disease Models, Animal
Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Munc18 Proteins

Vesicular Transport Proteins

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PMID: 32112430
DOI: 10.1111/epi.16464
PMCID: PMC8614121

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