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

Paroxysmal exercise-induced dyskinesia (PED) can occur in isolation or in association with epilepsy, but the genetic causes and pathophysiological mechanisms are still poorly understood. We performed a clinical evaluation and genetic analysis in a five-generation family with co-occurrence of PED and...

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Detalles Bibliográficos
Autores principales: Suls, Arvid, Dedeken, Peter, Goffin, Karolien, Van Esch, Hilde, Dupont, Patrick, Cassiman, David, Kempfle, Judith, Wuttke, Thomas V., Weber, Yvonne, Lerche, Holger, Afawi, Zaid, Vandenberghe, Wim, Korczyn, Amos D., Berkovic, Samuel F., Ekstein, Dana, Kivity, Sara, Ryvlin, Philippe, Claes, Lieve R. F., Deprez, Liesbet, Maljevic, Snezana, Vargas, Alberto, Van Dyck, Tine, Goossens, Dirk, Del-Favero, Jurgen, Van Laere, Koen, De Jonghe, Peter, Van Paesschen, Wim
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2008
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2442425/
https://www.ncbi.nlm.nih.gov/pubmed/18577546
http://dx.doi.org/10.1093/brain/awn113

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2442425/
https://www.ncbi.nlm.nih.gov/pubmed/18577546
http://dx.doi.org/10.1093/brain/awn113

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