Reversal of cell, circuit and seizure phenotypes in a mouse model of DNM1 epileptic encephalopathy

Dynamin-1 is a large GTPase with an obligatory role in synaptic vesicle endocytosis at mammalian nerve terminals. Heterozygous missense mutations in the dynamin-1 gene (DNM1) cause a novel form of epileptic encephalopathy, with pathogenic mutations clustering within regions required for its essentia...

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Detalles Bibliográficos
Autores principales: Bonnycastle, Katherine, Dobson, Katharine L., Blumrich, Eva-Maria, Gajbhiye, Akshada, Davenport, Elizabeth C., Pronot, Marie, Steinruecke, Moritz, Trost, Matthias, Gonzalez-Sulser, Alfredo, Cousin, Michael A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10468497/
https://www.ncbi.nlm.nih.gov/pubmed/37648685
http://dx.doi.org/10.1038/s41467-023-41035-w

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