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Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.
Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber Y, Lerche H, Afawi Z, Vandenberghe W, Korczyn AD, Berkovic SF, Ekstein D, Kivity S, Ryvlin P, Claes LR, Deprez L, Maljevic S, Vargas A, Van Dyck T, Goossens D, Del-Favero J, Van Laere K, De Jonghe P, Van Paesschen W. Suls A, et al. Among authors: van paesschen w, van dyck t, van esch h, van laere k. Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24. Brain. 2008. PMID: 18577546 Free PMC article.
Self-injection ictal SPECT during partial seizures.
Van Paesschen W, Dupont P, Van Heerden B, Vanbilloen H, Mesotten L, Maes A, Van Driel G, Mortelmans L. Van Paesschen W, et al. Among authors: van heerden b, van driel g. Neurology. 2000 May 23;54(10):1994-7. doi: 10.1212/wnl.54.10.1994. Neurology. 2000. PMID: 10822442
Familial temporal lobe epilepsy with febrile seizures.
Depondt C, Van Paesschen W, Matthijs G, Legius E, Martens K, Demaerel P, Wilms G. Depondt C, et al. Among authors: van paesschen w. Neurology. 2002 May 14;58(9):1429-33. doi: 10.1212/wnl.58.9.1429. Neurology. 2002. PMID: 12011300
A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus.
Audenaert D, Claes L, Claeys KG, Deprez L, Van Dyck T, Goossens D, Del-Favero J, Van Paesschen W, Van Broeckhoven C, De Jonghe P. Audenaert D, et al. Among authors: van paesschen w, van dyck t, van broeckhoven c. J Med Genet. 2005 Dec;42(12):947-52. doi: 10.1136/jmg.2005.031393. Epub 2005 Apr 12. J Med Genet. 2005. PMID: 15827091 Free PMC article.
198 results