A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism-Reference-Cited by-同舟云学术

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

Published:2009-04-07 Issue:13 Volume:18 Page:2370-2377
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Blanco-Arias P.,Einholm A. P.,Mamsa H.,Concheiro C.,Gutierrez-de-Teran H.,Romero J.,Toustrup-Jensen M. S.,Carracedo A.,Jen J. C.,Vilsen B.,Sobrido M.-J.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/18/13/2370/1531256/ddp170.pdf

Reference30 articles.

1. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2

2. Novel mutations in the Na+, K+-ATPase pump geneATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions

3. Rare missense variants inATP1A2 in families with clustering of common forms of migraine

4. Rapid-onset dystonia-parkinsonism

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