Genetic mechanisms that underlie epilepsy

被引:166
作者
Steinlein, OK [1 ]
机构
[1] Univ Bonn, Sch Med, Inst Human Genet, D-53111 Bonn, Germany
关键词
D O I
10.1038/nrn1388
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Genetic factors can cause recurrent abnormal synchronization and episodic hyperexcitability of neuronal networks through various mechanisms. Many of the genes that have been implicated in idiopathic epilepsies code for ion channels, whereas syndromes with epilepsy as a main feature are caused by genes that are involved in functions as diverse as cortical development, mitochondrial function and cell metabolism. Each 'epilepsy gene' that is identified provides new and fascinating insights into the molecular basis of neuronal excitability and brain function.
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收藏
页码:400 / 408
页数:9
相关论文
共 78 条
[1]   RNAi reveals doublecortin is required for radial migration in rat neocortex [J].
Bai, JL ;
Ramos, RL ;
Ackman, JB ;
Thomas, AM ;
Lee, RV ;
LoTurco, JJ .
NATURE NEUROSCIENCE, 2003, 6 (12) :1277-1283
[2]   First genetic evidence of GABAA receptor dysfunction in epilepsy:: a mutation in the γ2-subunit gene [J].
Baulac, S ;
Huberfeld, G ;
Gourfinkel-An, I ;
Mitropoulou, G ;
Beranger, A ;
Prud'homme, JF ;
Baulac, M ;
Brice, A ;
Bruzzone, R ;
LeGuern, E .
NATURE GENETICS, 2001, 28 (01) :46-48
[3]   Epilepsies in twins: Genetics of the major epilepsy syndromes [J].
Berkovic, SF ;
Howell, RA ;
Hay, DA ;
Hopper, JL .
ANNALS OF NEUROLOGY, 1998, 43 (04) :435-445
[4]   How mutations in the nAChRs can cause ADNFLE epilepsy [J].
Bertrand, D ;
Picard, F ;
Le Hellard, S ;
Weiland, S ;
Favre, I ;
Phillips, H ;
Bertrand, S ;
Berkovic, SF ;
Malafosse, A ;
Mulley, J .
EPILEPSIA, 2002, 43 :112-122
[5]   A potassium channel mutation in neonatal human epilepsy [J].
Biervert, C ;
Schroeder, BC ;
Kubisch, C ;
Berkovic, SF ;
Propping, P ;
Jentsch, TJ ;
Steinlein, OK .
SCIENCE, 1998, 279 (5349) :403-406
[6]   No evidence for a seriously increased malignancy risk in LGI1-caused epilepsy [J].
Brodtkorb, E ;
Nakken, KO ;
Steinlein, OK .
EPILEPSY RESEARCH, 2003, 56 (2-3) :205-208
[7]   Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24 [J].
Brodtkorb, E ;
Gu, WL ;
Nakken, KO ;
Fischer, C ;
Steinlein, TK .
EPILEPSIA, 2002, 43 (03) :228-235
[8]   M-CURRENTS - AN UPDATE [J].
BROWN, D .
TRENDS IN NEUROSCIENCES, 1988, 11 (07) :294-299
[9]  
CASTRO RAMIREZ L.C., 2010, NAT GENET, VXXXI, P33
[10]   Mutations in NHLRC1 cause progressive myoclonus epilepsy [J].
Chan, EM ;
Young, EJ ;
Ianzano, L ;
Munteanu, I ;
Zhao, XC ;
Christopoulos, CC ;
Avanzini, G ;
Elia, M ;
Ackerley, CA ;
Jovic, NJ ;
Bohlega, S ;
Andermann, E ;
Rouleau, GA ;
Delgado-Escueta, AV ;
Minassian, BA ;
Scherer, SW .
NATURE GENETICS, 2003, 35 (02) :125-127