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Literature DB >> 18413579

Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation.

C Kamm¹, W Fogel, T Wächter, K Schweitzer, D Berg, R Kruger, D Freudenstein, T Gasser.

Abstract

Entities: Gene Species

Mesh：

Substances：

Year: 2008 PMID： 18413579 DOI： 10.1212/01.wnl.0000310431.41036.e0

Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910

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22 in total

1. The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site.

Authors: Anja Pernille Einholm; Mads S Toustrup-Jensen; Rikke Holm; Jens Peter Andersen; Bente Vilsen
Journal: J Biol Chem Date: 2010-06-24 Impact factor: 5.157

2. Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.

Authors: Ihtsham U Haq; Beverly M Snively; Kathleen J Sweadner; Cynthia K Suerken; Jared F Cook; Laurie J Ozelius; Charlotte Miller; William V McCall; Christopher T Whitlow; Allison Brashear
Journal: Mov Disord Date: 2019-07-30 Impact factor: 10.338

3. Failure of Pallidal Deep Brain Stimulation in a Case of Rapid-Onset Dystonia Parkinsonism (DYT12).

Authors: Christof Brücke; Andreas Horn; Peter Huppke; Andreas Kupsch; Gerd-Helge Schneider; Andrea A Kühn
Journal: Mov Disord Clin Pract Date: 2014-12-30

4. Genetic Subtypes and Deep Brain Stimulation in Dystonia.

Authors: Ron L Alterman; Aristotelis S Filippidis
Journal: Mov Disord Clin Pract Date: 2018-08-11

5. Atypical Presentation of Rapid-onset Dystonia-parkinsonism (DYT12) Unresponsive to Deep Brain Stimulation of the Subthalamic Nucleus.

Authors: Juliane Weber; Tobias Piroth; Michel Rijntjes; Bernhard Jung; Peter C Reinacher; Cornelius Weiller; Volker A Coenen; Stephan Klebe
Journal: Mov Disord Clin Pract Date: 2018-04-01

10. Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.

Authors: Lesley J Ashmore; Stacy L Hrizo; Sarah M Paul; Wayne A Van Voorhies; Greg J Beitel; Michael J Palladino
Journal: Hum Genet Date: 2009-05-12 Impact factor: 4.132

Novel ATP1A3 mutation in a sporadic RDP patient with minimal benefit from deep brain stimulation.

1. The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site.

2. Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.

3. Failure of Pallidal Deep Brain Stimulation in a Case of Rapid-Onset Dystonia Parkinsonism (DYT12).

4. Genetic Subtypes and Deep Brain Stimulation in Dystonia.

5. Atypical Presentation of Rapid-onset Dystonia-parkinsonism (DYT12) Unresponsive to Deep Brain Stimulation of the Subthalamic Nucleus.

6. Failure of Sequential Pallidal and Motor Thalamus DBS for Rapid-Onset Dystonia-Parkinsonism (DYT12).

Review 7. Arching deep brain stimulation in dystonia types.

8. Childhood dystonias.

9. The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations.

10. Novel mutations affecting the Na, K ATPase alpha model complex neurological diseases and implicate the sodium pump in increased longevity.