A novelATP1A2mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms-Reference-Cited by-同舟云学术

A novelATP1A2mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

Published:2018-11-12 Issue:12 Volume:141 Page:3308-3318
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Sampedro Castañeda Marisol¹,Zanoteli Edmar²,Scalco Renata S¹,Scaramuzzi Vinicius²,Marques Caldas Vitor²,Conti Reed Umbertina²,da Silva Andre Macedo Serafim²,O’Callaghan Benjamin¹,Phadke Rahul³,Bugiardini Enrico¹,Sud Richa⁴,McCall Samuel⁴,Hanna Michael G¹,Poulsen Hanne⁵,Männikkö Roope¹,Matthews Emma¹

Affiliation:

1. MRC Centre for Neuromuscular Diseases, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK

2. Departamento de Neurologia, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, Brazil

3. Division of Neuropathology, UCL Institute of Neurology, London, UK

4. Neurogenetics Unit, UCL Institute of Neurology, Queen Square, London, UK

5. DANDRITE, Nordic EMBL Partnership for Molecular Medicine, Aarhus University, DK-8000 Aarhus, Denmark

Funder

MRC

Wellcome strategic award

NIHR

Wellcome Clinical Research Career Development Fellowship

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/141/12/3308/26954768/awy283.pdf

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2. A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood;Bassi;J Med Genet,2004

3. Differential distribution and regulation of mouse cardiac Na+/K+-ATPase alpha1 and alpha2 subunits in T-tubule and surface sarcolemmal membranes;Berry;Cardiovasc Res,2007

4. Evidence that Ser775 in the alpha subunit of the Na,K-ATPase is a residue in the cation binding pocket;Blostein;J Biol Chem,1997

5. Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans [review];Bøttger;Neurosci Biobehav Rev,2012

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