Genetics of human partial epilepsy

被引:25
作者
Berkovic, SF
Scheffer, IE
机构
[1] UNIV MELBOURNE, AUSTIN & REPATRIAT MED CTR, DEPT MED NEUROL, HEIDELBERG, GERMANY
[2] ROYAL CHILDRENS HOSP, DEPT NEUROL, MELBOURNE, VIC, AUSTRALIA
关键词
D O I
10.1097/00019052-199704000-00007
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A minor genetic predisposition to partial epilepsy has been long recognized. Recently, a group of idiopathic partial epilepsies with autosomal dominant inheritance has been identified. The clinical features and molecular genetic findings in these epilepsies are outlined in the present review. The first genetic defect in an idiopathic epilepsy has been found in autosomal dominant nocturnal frontal lobe epilepsy, the archetype of this newly recognized group of inherited partial epilepsies.
引用
收藏
页码:110 / 114
页数:5
相关论文
共 39 条
[21]   A LOCUS FOR CEREBRAL CAVERNOUS MALFORMATIONS MAPS TO CHROMOSOME 7Q IN 2 FAMILIES [J].
MARCHUK, DA ;
GALLIONE, CJ ;
MORRISON, LA ;
CLERICUZIO, CL ;
HART, BL ;
KOSOFSKY, BE ;
LOUIS, DN ;
GUSELLA, JF ;
DAVIS, LE ;
PRENGER, VL .
GENOMICS, 1995, 28 (02) :311-314
[22]   Autosomal dominant nocturnal frontal lobe epilepsy: Electroclinical picture [J].
Oldani, A ;
Zucconi, M ;
FeriniStrambi, L ;
Bizzozero, D ;
Smirne, S .
EPILEPSIA, 1996, 37 (10) :964-976
[23]   GENETICS OF THE PARTIAL EPILEPSIES - A REVIEW [J].
OTTMAN, R .
EPILEPSIA, 1989, 30 (01) :107-111
[24]   LOCALIZATION OF A GENE FOR PARTIAL EPILEPSY TO CHROMOSOME 10Q [J].
OTTMAN, R ;
RISCH, N ;
HAUSER, WA ;
PEDLEY, TA ;
LEE, JH ;
BARKERCUMMINGS, C ;
LUSTENBERGER, A ;
NAGLE, KJ ;
LEE, KS ;
SCHEUER, ML ;
NEYSTAT, M ;
SUSSER, M ;
WILHELMSEN, KC .
NATURE GENETICS, 1995, 10 (01) :56-60
[25]   LOCALIZATION OF A GENE FOR AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY TO CHROMOSOME 20Q13.2 [J].
PHILLIPS, HA ;
SCHEFFER, IE ;
BERKOVIC, SF ;
HOLLWAY, GE ;
SUTHERLAND, GR ;
MULLEY, JC .
NATURE GENETICS, 1995, 10 (01) :117-118
[26]  
Plouin P., 1994, IDIOPATHIC GEN EPILE, P39
[27]   PARTIAL EPILEPSY - CHINKS IN THE ARMOR [J].
RYAN, SG .
NATURE GENETICS, 1995, 10 (01) :4-6
[28]   AUTOSOMAL-DOMINANT NOCTURNAL FRONTAL-LOBE EPILEPSY - A DISTINCTIVE CLINICAL DISORDER [J].
SCHEFFER, IE ;
BHATIA, KP ;
LOPESCENDES, I ;
FISH, DR ;
MARSDEN, CD ;
ANDERMANN, E ;
ANDERMANN, F ;
DESBIENS, R ;
KEENE, D ;
CENDES, F ;
MANSON, JI ;
CONSTANTINOU, JEC ;
MCINTOSH, A ;
BERKOVIC, SF .
BRAIN, 1995, 118 :61-73
[29]   AUTOSOMAL-DOMINANT FRONTAL EPILEPSY MISDIAGNOSED AS SLEEP DISORDER [J].
SCHEFFER, IE ;
BHATIA, KP ;
LOPESCENDES, I ;
FISH, DR ;
MARSDEN, CD ;
ANDERMANN, F ;
ANDERMANN, E ;
DESBIENS, R ;
CENDES, F ;
MANSON, JI ;
BERKOVIC, S .
LANCET, 1994, 343 (8896) :515-517
[30]   AUTOSOMAL-DOMINANT ROLANDIC EPILEPSY AND SPEECH DYSPRAXIA - A NEW SYNDROME WITH ANTICIPATION [J].
SCHEFFER, IE ;
JONES, L ;
POZZEBON, M ;
HOWELL, RA ;
SALING, MM ;
BERKOVIC, SF .
ANNALS OF NEUROLOGY, 1995, 38 (04) :633-642