GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak
Erstveröffentlichung
2008
Wissenschaftlicher Artikel
Published in
Journal of Clinical Investigation ; 118 (2008), 6. - S. 2157-2168. - ISSN 0021-9738
Link to publication
https://dx.doi.org/10.1172/JCI34438Faculties
Medizinische FakultätInstitutions
UKU. Klinik für NeurologieInstitut für Anatomie und Zellbiologie
Institut für Angewandte Physiologie
UKU. Klinik für Nuklearmedizin
Subject headings
[Free subject headings]: exercise-induced dystonia | familial infantile convulsions | cysteine-scanning mutagenesis | blood-brain-barrier | glucose-transporter | movement-disorder | deficiency syndrome | red-cells | epilepsy | gene[DDC subject group]: DDC 610 / Medicine & health