DO IDIOPATHIC GENERALIZED EPILEPSIES SHARE A COMMON SUSCEPTIBILITY GENE

被引:0
|
作者
JANZ, D [1 ]
BECKMANNAGETTA, G [1 ]
SANDER, T [1 ]
机构
[1] FREE UNIV BERLIN,KLINIKUM RUDOLF VIRCHOW,PSYCHIAT KLIN,W-1000 BERLIN 19,GERMANY
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Molecular genetic research in epilepsy is most promising in the homogeneous, genetically determined forms of the disease. The phenotype-genotype strategy used makes some epileptic syndromes more suitable for such study than others. Unequivocal clinical presentation, mendelian transmission with similar clinical expression in close relatives, and sufficiently large numbers of affected families are requisites. This makes idiopathic generalized epilepsies (IGEs), particularly absence and juvenile myoclonic epilepsies (JMEs), suitable subtypes for genetic analysis. Results of family studies to date show that five IGE syndromes have a common genetic origin. Linkage studies have localized a gene defect on chromosome 6p that predisposes to a group of IGEs: JME, absence epilepsy, and generalized tonic-clonic seizures in epilepsy families with JME probands. Environmental and additional genetic factors are other areas requiring further study to elucidate the discriminant factors associated with different varieties of IGE.
引用
收藏
页码:48 / 55
页数:8
相关论文
共 50 条
  • [1] Genome search for susceptibility loci of common idiopathic generalised epilepsies
    Sander, T
    Schulz, H
    Saar, K
    Gennaro, E
    Riggio, MC
    Bianchi, A
    Zara, F
    Luna, D
    Bulteau, C
    Kaminska, A
    Ville, D
    Cieuta, C
    Picard, F
    Prud'homme, JF
    Bate, L
    Sundquist, A
    Gardiner, RM
    Janssen, GAMAJ
    de Haan, GJ
    Kasteleijn-Nolst-Trenité, DGA
    Bader, A
    Lindhout, D
    Riess, O
    Wienker, TF
    Janz, D
    Reis, A
    HUMAN MOLECULAR GENETICS, 2000, 9 (10) : 1465 - 1472
  • [2] Idiopathic generalized epilepsies
    Ruiz, Graciela Del Pilar Guerrero
    MEDICINA-BUENOS AIRES, 2023, 83 : 69 - 75
  • [3] Idiopathic generalized epilepsies: Do sporadic and familial cases differ?
    Briellmann, RS
    Torn-Broers, Y
    Berkovic, SF
    EPILEPSIA, 2001, 42 (11) : 1399 - 1402
  • [4] Idiopathic generalized epilepsies misdiagnosed as partial epilepsies
    Mory, SB
    Guerreiro, CAM
    Li, LM
    Teixeira, RA
    Costa, ALC
    Cardoso, TAM
    Cendes, F
    ARQUIVOS DE NEURO-PSIQUIATRIA, 2002, 60 (3B) : 788 - 796
  • [5] Idiopathic generalized epilepsies imitating focal epilepsies
    Ferrie, CD
    EPILEPSIA, 2005, 46 : 91 - 95
  • [6] Symptomatic epilepsies imitating idiopathic generalized epilepsies
    Oguni, H
    EPILEPSIA, 2005, 46 : 84 - 90
  • [7] Photosensitivity in idiopathic generalized epilepsies
    Covanis, A
    EPILEPSIA, 2005, 46 : 67 - 72
  • [8] Are Idiopathic Generalized Epilepsies Focal?
    Szaflarski, Jerzy P.
    EPILEPSY CURRENTS, 2016, 16 (04) : 242 - 244
  • [9] Idiopathic generalized epilepsies of adolescence
    Zara, F
    EPILEPSIA, 2003, 44 : 19 - 19
  • [10] Seizures of idiopathic generalized epilepsies
    Durón, RM
    Medina, MT
    Martínez-Juárez, IE
    Bailey, JN
    Perez-Gosiengfiao, KT
    Ramos-Ramírez, R
    López-Ruiz, M
    Alonso, ME
    Ortega, RHC
    Pascual-Castroviejo, I
    Machado-Salas, J
    Mija, L
    Delgado-Escueta, AV
    EPILEPSIA, 2005, 46 : 34 - 47