CareLit · DOI-Nachweis · Aktuelle Neurologie
A GLUT1 mutation in patients with spastic paraplegia and paroxysmal dyskinesia
DOI 10.1055/s-0029-1238350
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Autor:innenYG Weber, C Kamm, J Kempfle, A Suls, T Wuttke, A Salvo-Vargas, A Bellan-Koch, S Maljevic, T Gasser, P DeJonge, G Auburger, H Lerche
ZeitschriftAktuelle Neurologie
Ausgabe10/2009
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Glut1 is the glucose transporter of the blood brain barrier, thus a crucial molecule to deliver the most important energy carrier to the brain. Mutations in Glut1 have been found in Glut1-deficiency syndrome, a severe syndrome of early childhood with drug resistant epilepsy, microcephaly and progressive mental retardation. Recently, we detected mutations in Glut1 in patients with paroxysmal exercise-induced dyskines…
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Zitierempfehlung
YG Weber, C Kamm, J Kempfle, A Suls, T Wuttke, A Salvo-Vargas, A Bellan-Koch, S Maljevic, T Gasser, P DeJonge, G Auburger, H Lerche (2009) A GLUT1 mutation in patients with spastic paraplegia and paroxysmal dyskinesia. Aktuelle Neurologie (10). https://doi.org/10.1055/s-0029-1238350
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