SYT1-associated neurodevelopmental disorder: a case series

Synaptotagmin 1 (SYT1) is a critical mediator of fast, synchronous, calcium-dependent neurotransmitter release and also modulates synaptic vesicle endocytosis. This paper describes 11 patients with de novo heterozygous missense mutations in SYT1. All mutations alter highly conserved residues, and cl...

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Detalles Bibliográficos
Autores principales: Baker, Kate, Gordon, Sarah L, Melland, Holly, Bumbak, Fabian, Scott, Daniel J, Jiang, Tess J, Owen, David, Turner, Bradley J, Boyd, Stewart G, Rossi, Mari, Al-Raqad, Mohammed, Elpeleg, Orly, Peck, Dawn, Mancini, Grazia M S, Wilke, Martina, Zollino, Marcella, Marangi, Giuseppe, Weigand, Heike, Borggraefe, Ingo, Haack, Tobias, Stark, Zornitza, Sadedin, Simon, Tan, Tiong Yang, Jiang, Yunyun, Gibbs, Richard A, Ellingwood, Sara, Amaral, Michelle, Kelley, Whitley, Kurian, Manju A, Cousin, Michael A, Raymond, F Lucy
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/PMC6113648/
https://www.ncbi.nlm.nih.gov/pubmed/30107533
http://dx.doi.org/10.1093/brain/awy209

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