Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder

Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder

Mutations of the neuronal sodium channel gene SCN8A are associated with lethal movement disorders in the mouse and with human epileptic encephalopathy. We describe a spontaneous mouse mutation, Scn8a9J, that is associated with a chronic movement disorder with early onset tremor and adult onset dysto...

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Bibliographic Details
Main Authors: Julie M. Jones, Louise Dionne, James Dell'Orco, Rachel Parent, Jamie N. Krueger, Xiaoyang Cheng, Sulayman D. Dib-Hajj, Rosie K. Bunton-Stasyshyn, Lisa M. Sharkey, James J. Dowling, Geoffrey G. Murphy, Vikram G. Shakkottai, Peter Shrager, Miriam H. Meisler
Format: Article
Language:English
Published: Elsevier 2016-05-01
Series:Neurobiology of Disease
Subjects:
Voltage-gated sodium channel
Movement disorder
Transmembrane segment
Glycosylation
Axon initial segment
Nodes of Ranvier
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996116300171

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http://www.sciencedirect.com/science/article/pii/S0969996116300171

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