Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

Erstveröffentlichung
2008Authors
Suls, Arvid
Dedeken, Peter
Goffin, Karolien
Van Esch, Hilde
Dupont, Patrick
Wissenschaftlicher Artikel
Published in
Brain ; 131 (2008), 7. - S. 1831-1844. - ISSN 0006-8950. - eISSN 1460-2156
Link to publication
https://dx.doi.org/10.1093/brain/awn113Faculties
Medizinische FakultätInstitutions
UKU. Klinik für NeurologieInstitut für Angewandte Physiologie
Subject headings
[Free subject headings]: GLUT1 | paroxysmal dyskinesia | exercise-induced | GLUT1 deficiency syndrome | ketogenic diet | AUTOSOMAL-DOMINANT TRANSMISSION | FAMILIAL INFANTILE CONVULSIONS | DEFICIENCY SYNDROME | INDUCED DYSTONIA | KINESIGENIC CHOREOATHETOSIS | MOVEMENT-DISORDER | ABSENCE EPILEPSY | GENETIC-LINKAGE | CONFIRMATION[DDC subject group]: DDC 610 / Medicine & health