Schaltverhalten von Ionenkanälen und deren Rolle für die Pathogenese idiopathischer Epilepsiesyndrome

• Applicant: Professor Dr. Holger Lerche
• Subject Area: Clinical Neurology; Neurosurgery and Neuroradiology
• Term: from 2002 to 2008
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 5394230

• Final Report Year: 2010

Final Report Abstract

No abstract available

Publications

• A mutation in the the GABAA receptor α1-subunit is associated with absence epilepsy. Ann Neurol 2006;59:983-7
  Maljevic S, Krampfl K, Cobilanschi J, Tilgen N, Beyer S, Weber YG, Schlesinger F, Ursu D, Melzer W, Cossette P, Bufler J, Lerche H, Heils A
  
• GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008;118:2157-68
  Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, Margari L, Kamm C, Schneider SA, Huber S, Pekrun A, Roebling R, Seebohm G, Koka S, Lang C, Kraft E, Blazevic D, Salvo-Vargas A, Fauler M, Mottaghy FM, Münchau A, Edwards MJ, Presicci A, Margari F, Gasser T, Lang F, Bhatia KP, Lehmann-Horn F, Lerche H
  
• Early onset absence epilepsy due to mutations in the glucose transporter GLUT1. Ann Neurol 2009; 66:415-9
  Suls A, Mullen SA, Weber YG, K Verhaert K, Ceulemans B, R Guerrini R, Wuttke TV, Salvo- Vargas A, Deprez L, Claes LRF, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE
  
• Identification of a 15q13.3 microdeletion as a risk factor for Idiopathic Generalised Epilepsy. Nat Genet 2009;41:160-2
  Helbig I, Mefford HC, Sharp JA, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Steinich I, Kleefuß-Lie A, Leu C, Gaus V, Klein MK, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BPC, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T
  
• Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain 2010;133:1403-14
  Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H