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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: berkovic sf. Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24. Brain. 2008. PMID: 18577546 Free PMC article.
Exercise-induced temporal lobe epilepsy.
Sturm JW, Fedi M, Berkovic SF, Reutens DC. Sturm JW, et al. Among authors: berkovic sf. Neurology. 2002 Oct 22;59(8):1246-8. doi: 10.1212/wnl.59.8.1246. Neurology. 2002. PMID: 12391356
LGI1 mutations in temporal lobe epilepsies.
Berkovic SF, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC. Berkovic SF, et al. Neurology. 2004 Apr 13;62(7):1115-9. doi: 10.1212/01.wnl.0000118213.94650.81. Neurology. 2004. PMID: 15079010
Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.
Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF. Marini C, et al. Among authors: berkovic sf. Epilepsia. 2004 May;45(5):467-78. doi: 10.1111/j.0013-9580.2004.46803.x. Epilepsia. 2004. PMID: 15101828 Free article.
Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.
Badhwar A, Berkovic SF, Dowling JP, Gonzales M, Narayanan S, Brodtmann A, Berzen L, Caviness J, Trenkwalder C, Winkelmann J, Rivest J, Lambert M, Hernandez-Cossio O, Carpenter S, Andermann F, Andermann E. Badhwar A, et al. Among authors: berkovic sf. Brain. 2004 Oct;127(Pt 10):2173-82. doi: 10.1093/brain/awh263. Epub 2004 Sep 13. Brain. 2004. PMID: 15364701
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations.
Scheffer IE, Harkin LA, Grinton BE, Dibbens LM, Turner SJ, Zielinski MA, Xu R, Jackson G, Adams J, Connellan M, Petrou S, Wellard RM, Briellmann RS, Wallace RH, Mulley JC, Berkovic SF. Scheffer IE, et al. Among authors: berkovic sf. Brain. 2007 Jan;130(Pt 1):100-9. doi: 10.1093/brain/awl272. Epub 2006 Oct 4. Brain. 2007. PMID: 17020904
737 results