GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

Weber, Yvonne G.; Storch, Alexander; Wuttke, Thomas V.; Brockmann, Knut; Kempfle, Judith; Maljevic, Snezana; Margari, Lucia; Kamm, Christoph; Schneider, Susanne A.; Huber, Stephan M.; Pekrun, Arnulf; Roebling, Robert; Seebohm, Guiscard; Koka, Saisudha; Lang, Camelia; Kraft, Eduard; Blazevic, Dragica; Salvo-Vargas, Alberto; Fauler, Michael; Mottaghy, Felix M.; Muenchau, Alexander; Edwards, Mark J.; Presicci, Anna; Margari, Francesco; Gasser, Thomas; Lang, Florian; Bhatia, Kailash P.; Lehmann-Horn, Frank; Lerche, Holger

Erstveröffentlichung

2008

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Wissenschaftlicher Artikel

Authors

Weber, Yvonne G.

Storch, Alexander

Wuttke, Thomas V.

Brockmann, Knut

Kempfle, Judith

et al.

Faculties

Medizinische Fakultät

Institutions

UKU. Klinik für Neurologie
Institut für Anatomie und Zellbiologie
Institut für Angewandte Physiologie
UKU. Klinik für Nuklearmedizin

Published in

Journal of Clinical Investigation ; 118 (2008), 6. - S. 2157-2168. - ISSN 0021-9738

Link to publication

https://dx.doi.org/10.1172/JCI34438

Keywords

exercise-induced dystonia; familial infantile convulsions; cysteine-scanning mutagenesis; blood-brain-barrier; glucose-transporter; movement-disorder; deficiency syndrome; red-cells; epilepsy; gene

Dewey Decimal Group

DDC 610 / Medicine & health

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