PRRT2-related disorders: further PKD and ICCA cases and review of the literature-Reference-Cited by-同舟云学术

PRRT2-related disorders: further PKD and ICCA cases and review of the literature

Published:2013-01-09 Issue:5 Volume:260 Page:1234-1244
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Becker Felicitas,Schubert Julian,Striano Pasquale,Anttonen Anna-Kaisa,Liukkonen Elina,Gaily Eija,Gerloff Christian,Müller Stephan,Heußinger Nicole,Kellinghaus Christoph,Robbiano Angela,Polvi Anne,Zittel Simone,Oertzen Tim J.,Rostasy Kevin,Schöls Ludger,Warner Tom,Münchau Alexander,Lehesjoki Anna-Elina,Zara Federico,Lerche Holger,Weber Yvonne G.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-012-6777-y.pdf

Reference39 articles.

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2. Weber YG, Storch A, Wuttke TV et al (2008) GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 118(6):2157–2168

3. Suls A, Dedeken P, Goffin K et al (2008) Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 131(Pt 7):1831–1844. Epub Jun 24

4. Rainier S, Thomas D, Tokarz D et al (2004) Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 61:1025–1029

5. Lee HY, Nakayama J, Xu Y et al (2012) Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia. J Clin Invest 122(2):507–518

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