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46 - MA Kauffman y col. - Octubre 2007

  • Text
  • Consalvo
  • Kauffman
  • Genetics
  • Genes
  • Hipocampo
  • Temporal
  • Presencia
  • Familial
  • Convulsiones
  • Desarrollo
  • Hipocampo
  • Mesial
  • Epilepsy
  • Lobe
  • Epilepsia
  • Temporal
Genética de la epilepsia del lóbulo temporal. Marcelo Andrés Kauffman, Damián Consalvo, Silvia Consalvo

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Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures. J Med Genet 2004;41(9):710-4. 40. Fernandez G, Effenberger O, Vinz B, Steinlein O, Elger CE, Dohring W, et al. Hippocampal malformation as a cause of familial febrile convulsions and subsequent hippocampal sclerosis. Neurology 1998;50(4):909-17. 41. Scheffer IE, Harkin LA, Grinton BE, Dibbens LM, Turner SJ, Zielinski MA, et al. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain 2007;130(Pt 1):100-9. 42. Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 2001;57(12):2265-72. 43. Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, Panchal RG, et al. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 2001;28(1):49-52. 44. 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Kauffman M, Consalvo D, Moron DG, Kochen S. Asociación entre Alelos Transcripcionalmente Deficientes del gen de la Prodinorfina y el Desarrollo de Epilepsia del Lóbulo Temporal. Revista Neurológica Argentina 2007;32(en prensa). 55. Gambardella A, Manna I, Labate A, Chifari R, Serra P, La Russa A, et al. Prodynorphin gene promoter polymorphism and temporal lobe epilepsy. Epilepsia 2003;44(9):1255-6. 56. Gambardella A, Manna I, Labate A, Chifari R, La Russa A, Serra P, et al. GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy. Neurology 2003;60(4):560-3. 57. Ren L, Jin L, Zhang B, Jia Y, Wu L, Shen Y. Lack of GABABR1 gene variation (G1465A) in a Chinese population with temporal lobe epilepsy. Seizure 2005;14(8):611-3. 58. Stogmann E, Zimprich A, Baumgartner C, Gleiss A, Zimprich F. Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy. Epilepsia 2006;47(2):437-9. 59. 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Coimbra ER, Rezek K, Escorsi-Rosset S, Landemberger MC, Castro RM, Valadao MN, et al. Cognitive performance of patients with mesial temporal lobe epilepsy is not associated with human prion protein gene variant allele at codons 129 and 171. Epilepsy Behav 2006;8(3):635-42. 70. Lohoff FW, Ferraro TN, Dahl JP, Hildebrandt MA, Scattergood TM, O'Connor MJ, et al. Lack of association between variations in the brainderived neurotrophic factor (BDNF) gene and temporal lobe epilepsy. Epilepsy Res 2005;66(1- 3):59-62. EDITORIAL SCIENS // 21

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