Genetik, Pathophysiologie und therapetische Perspektiven hereditärer Epilepsien

• Applicant: Professor Dr. Holger Lerche
• Subject Area: Molecular Biology and Physiology of Neurons and Glial Cells
• Term: from 2003 to 2006
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 5404054

• Final Report Year: 2008

Final Report Abstract

No abstract available

Publications

• Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 2003;33:527-32
  Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Muller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A
  
• Benign familial infantile convulsions: Linkage to chromosome 16p12-q12 in 14 families. Epilepsia 2004;45:601-9
  Weber YG, Berger A, Hallbach A, Bebek N, Maier S, Karafyllakes S, Fukuyama Y, Hickel C, Kurlemann G, Neubauer B, Osawa M, Püst B, Rating D, Saito K, Stephani U, Lehmann-Horn F, Jurkat-Rott K, Lerche H
  
• Ion channel defects in idiopathic epilepsies. Curr Pharm Des 2005;11:2737-52
  Lerche H, Weber YG, Jurkat-Rott K, Lehmann-Horn F
  
• Molecular analysis of the A322D mutation in the a1-subunit of the GABAA receptor causing juvenile myoclonic epilepsy. Eur J Neurosci 2005;22:10-20
  Krampfl K, Maljevic S, Cossette P, Ziegler E, Rouleau GA, Lerche H, Bufler J
  
• The new anticonvulsant Retigabine favors voltage-dependent opening of the Kv7.2 (KCNQ2) channel by binding to its activation gate. Mol Pharm 2005;67:1009-17
  Wuttke TV, Seebohm G, Bail S, Maljevic S, Lerche H
  
• A mutation in the the GABAA receptor a1-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
  
• Cu-Phenantroline is an open channel blocker of the voltage-gated Na+ channel. Br J Pharm 2006;147:808-14
  Popa MO, Lerche H
  
• Immunohistochemical analysis of KCNQ2 potassium channels in adult and developing mouse brain. Brain Res 2006;1077:1-6
  Weber YG, Geiger J, Kaempchen K, Lindenberg K, Landwehrmeyer B, Sommer C, Lerche H
  
• Immunohistochemical analysis of KCNQ3 potassium channels in mouse brain. Neurosci Lett 2006;400:101-4
  Geiger J, Weber YG, Landwehrmeyer B, Sommer C, Lerche H
  
• Ion channel dysfunctions in idiopathic epilepsies. Curr Med Lit Neurol 2006;22:33-47
  Maljevic S, Lerche H
  
• Modeling of single non-inactivating Na+ channels: evidence for two open and several fast inactivated states. Biophys J 2006;90:3511-22
  The YK, Fernandez J, Popa MO, Timmer J, Lerche H
  
• Novel anticonvulsant drugs targeting voltage-dependent ion channels. Exp Opin Invest Drugs 2006;15:1167-77
  Wuttke T, Lerche H
  
• Subthreshold changes of voltage-dependent activation of the KV7.2 channel in neonatal epilepsy. Neurobiol Dis 2006;24:194-201
  Hunter, Maljevic M, Shankar A, Siegel A, Olson L, Weissman B, Holt P, Lerche H, Escayg A
  
• Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. Neurology 2007;69:2045-53
  Wuttke T, Jurkat-Rott K, Paulus W, Garncarek M, Lehmann-Horn F, Lerche H
  
• Nervous system KV7 disorders: break down of a subthreshold brake. J Physiol 2008;586:1791-801
  Maljevic S, Wuttke T, Lerche H
  
• Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy. J Physiol. 2008;586:545-55
  Wuttke T, Penzien J, Fauler M, Seebohm G, Lehmann-Horn F, Lerche H, Jurkat-Rott K
  
• Role of the KCNQ gene family in ion channel disorders. Cell Science 2008;4:53-73, online Journal
  Maljevic S, Wuttke T, Seebohm G, Lerche H