A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.

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 let...

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Bibliographic Details
Main Authors: Rebecca M Boumil, Verity A Letts, Monica C Roberts, Christine Lenz, Connie L Mahaffey, Zhong-Wei Zhang, Tobias Moser, Wayne N Frankel
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-08-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC2916854?pdf=render

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http://europepmc.org/articles/PMC2916854?pdf=render

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