Recent advances in the genetics of epilepsy: Insights from human and animal studies

被引:32
作者
Prasad, AN
Prasad, C
Stafstrom, CE
机构
[1] Charles A Janeway Child Hlth Ctr, Dept Pediat, St John, NF, Canada
[2] Charles A Janeway Child Hlth Ctr, Dept Neurol, St John, NF, Canada
[3] Charles A Janeway Child Hlth Ctr, Dept Genet, St John, NF, Canada
[4] Tufts Univ, Sch Med, New England Med Ctr, Floating Hosp Children,Div Pediat Neurol, Boston, MA 02111 USA
关键词
epilepsy; genetics; human; pathophysiology; animal models;
D O I
10.1111/j.1528-1157.1999.tb02004.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Progress in understanding the genetics of epilepsy is proceeding at a dizzying pace. Due in large part to rapid progress in molecular genetics, gene defects underlying many of the inherited epilepsies have been mapped, and several more are likely to be added each year. In this review, we summarize the available information on the genetic basis of human epilepsies and epilepsy syndromes, and correlate these advances with rapidly expanding information about the mechanisms of epilepsy gained from both spontaneous and transgenic animal models. We also provide practical suggestions for clinicians confronted with families in which multiple members are afflicted with epilepsy.
引用
收藏
页码:1329 / 1352
页数:24
相关论文
共 302 条
[1]   Epilepsy and brain abnormalities in mice lacking the Otx1 gene [J].
Acampora, D ;
Mazan, S ;
Avantaggiato, V ;
Barone, P ;
Tuorto, F ;
Lallemand, Y ;
Brulet, P ;
Simeone, A .
NATURE GENETICS, 1996, 14 (02) :218-222
[2]   OVEREXPRESSION OF THE NEURAL GROWTH-ASSOCIATED PROTEIN GAP-43 INDUCES NERVE SPROUTING IN THE ADULT NERVOUS-SYSTEM OF TRANSGENIC MICE [J].
AIGNER, L ;
ARBER, S ;
KAPFHAMMER, JP ;
LAUX, T ;
SCHNEIDER, C ;
BOTTERI, F ;
BRENNER, HR ;
CARONI, P .
CELL, 1995, 83 (02) :269-278
[3]   Pharmacological profiles of generalized absence seizures in lethargic, stargazer and gamma-hydroxybutyrate-treated model mice [J].
Aizawa, M ;
Ito, Y ;
Fukuda, H .
NEUROSCIENCE RESEARCH, 1997, 29 (01) :17-25
[4]   Shaking down new epilepsy genes [J].
Allen, KM ;
Walsh, C .
NATURE MEDICINE, 1996, 2 (05) :516-518
[5]  
Altherr MR, 1997, AM J MED GENET, V71, P47, DOI 10.1002/(SICI)1096-8628(19970711)71:1<47::AID-AJMG9>3.0.CO
[6]  
2-N
[7]   ICTAL EEG FINDINGS IN AN INFANT WITH BENIGN FAMILIAL NEONATAL CONVULSIONS [J].
ANDREWS, PI ;
STAFSTROM, CE .
JOURNAL OF EPILEPSY, 1993, 6 (03) :174-179
[8]  
ANGELMAN H, 1965, DEV MED CHILD NEUROL, V7, P681
[9]  
[Anonymous], 1981, Epilepsia, V22, P489
[10]   PROPOSAL FOR REVISED CLASSIFICATION OF EPILEPSIES AND EPILEPTIC SYNDROMES [J].
不详 .
EPILEPSIA, 1989, 30 (04) :389-399