Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalities

BACKGROUND: Dynamin 1 is a protein involved in the synaptic vesicle cycle, which facilitates the exocytosis of neurotransmitters necessary for normal signaling and development in the central nervous system. Pathogenic variants in DNM1 have been implicated in global developmental delay (DD), severe i...

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Detalles Bibliográficos
Autores principales: Brereton, Emily, Fassi, Emily, Araujo, Gabriel C., Dodd, Jonathan, Telegrafi, Aida, Pathak, Sheel J., Shinawi, Marwan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902389/
https://www.ncbi.nlm.nih.gov/pubmed/29397573
http://dx.doi.org/10.1002/mgg3.362

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