A Missense Mutation in a Highly Conserved Alternate Exon of Dynamin-1 Causes Epilepsy in Fitful Mice

Dynamin-1 (Dnm1) encodes a large multimeric GTPase necessary for activity-dependent membrane recycling in neurons, including synaptic vesicle endocytosis. Mice heterozygous for a novel spontaneous Dnm1 mutation—fitful—experience recurrent seizures, and homozygotes have more debilitating, often letha...

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Detalles Bibliográficos
Autores principales: Boumil, Rebecca M., Letts, Verity A., Roberts, Monica C., Lenz, Christine, Mahaffey, Connie L., Zhang, Zhong-wei, Moser, Tobias, Frankel, Wayne N.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2916854/
https://www.ncbi.nlm.nih.gov/pubmed/20700442
http://dx.doi.org/10.1371/journal.pgen.1001046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2916854/
https://www.ncbi.nlm.nih.gov/pubmed/20700442
http://dx.doi.org/10.1371/journal.pgen.1001046

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