Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy

De novo heterozygous mutations in STXBP1/Munc18-1 cause early infantile epileptic encephalopathies (EIEE4, OMIM #612164) characterized by infantile epilepsy, developmental delay, intellectual disability, and can include autistic features. We characterized the cellular deficits for an allelic series...

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Detalles Bibliográficos
Autores principales: Kovačević, Jovana, Maroteaux, Gregoire, Schut, Desiree, Loos, Maarten, Dubey, Mohit, Pitsch, Julika, Remmelink, Esther, Koopmans, Bastijn, Crowley, James, Cornelisse, L Niels, Sullivan, Patrick F, Schoch, Susanne, Toonen, Ruud F, Stiedl, Oliver, Verhage, Matthijs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5917748/
https://www.ncbi.nlm.nih.gov/pubmed/29538625
http://dx.doi.org/10.1093/brain/awy046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5917748/
https://www.ncbi.nlm.nih.gov/pubmed/29538625
http://dx.doi.org/10.1093/brain/awy046

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