MAJOR PATTERNS OF HUMAN INHERITANCE - RELEVANCE TO THE EPILEPSIES

被引：8
作者：
BIRD, TD [1 ]
机构：
[1] UNIV WASHINGTON,SCH MED,DEPT MED,SEATTLE,WA 98195
来源：
EPILEPSIA | 1994年 / 35卷
关键词：
GENETICS; CHROMOSOME ABERRATIONS; MITOCHONDRIAL DNA; IMPRINTING (GENETIC); ANTICIPATION; UNIPARENTAL DISOMY;
D O I：
10.1111/j.1528-1157.1994.tb05924.x
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
An understanding of the basic principles of human inheritance patterns is necessary to appreciate the variety and complexity of genetic influences in the epilepsies. The various modes of human inheritance include single gene (mendelian), chromosomal, mitochondrial, and multifactorial/polygenic. Recent insights regarding imprinting, anticipation, and uniparental disomy have been made and have an impact on our understanding of human genetics. All of these phenomena are likely to be of importance in the epilepsies and form the basis for a more detailed analysis of the relevant molecular biology.
引用
收藏
页码：S2 / S6
页数：5
相关论文
共 20 条
[1]  
Anderson V E, 1985, Prog Med Genet, V6, P9
[2]  
Bird T D, 1987, Epilepsia, V28 Suppl 1, pS71, DOI 10.1111/j.1528-1157.1987.tb05761.x
[3]   TRIPLET REPEAT MUTATIONS IN HUMAN-DISEASE [J].
CASKEY, CT ;
PIZZUTI, A ;
FU, YH ;
FENWICK, RG ;
NELSON, DL .
SCIENCE, 1992, 256 (5058) :784-789
[4]   GENE-MAPPING IN THE IDIOPATHIC GENERALIZED EPILEPSIES - JUVENILE MYOCLONIC EPILEPSY, CHILDHOOD ABSENCE EPILEPSY, EPILEPSY WITH GRAND-MAL SEIZURES, AND EARLY-CHILDHOOD MYOCLONIC EPILEPSY [J].
DELGADOESCUETA, AV ;
GREENBERG, D ;
WEISSBECKER, K ;
LIU, A ;
TREIMAN, L ;
SPARKES, R ;
PARK, MS ;
BARBETTI, A ;
TERASAKI, PI .
EPILEPSIA, 1990, 31 :S19-S29
[5]   LOCALIZATION OF IDIOPATHIC GENERALIZED EPILEPSY ON CHROMOSOME 6P IN FAMILIES OF JUVENILE MYOCLONIC EPILEPSY PATIENTS [J].
DURNER, M ;
SANDER, T ;
GREENBERG, DA ;
JOHNSON, K ;
BECKMANNAGETTA, G ;
JANZ, D .
NEUROLOGY, 1991, 41 (10) :1651-1655
[6]   THE GENETIC-POLYMORPHISM OF DEBRISOQUINE SPARTEINE METABOLISM - CLINICAL ASPECTS [J].
EICHELBAUM, M ;
GROSS, AS .
PHARMACOLOGY & THERAPEUTICS, 1990, 46 (03) :377-394
[7]  
FRANCKE U, 1985, AM J HUM GENET, V37, P250
[8]   EXPANSION OF AN UNSTABLE DNA REGION AND PHENOTYPIC VARIATION IN MYOTONIC-DYSTROPHY [J].
HARLEY, HG ;
BROOK, JD ;
RUNDLE, SA ;
CROW, S ;
REARDON, W ;
BUCKLER, AJ ;
HARPER, PS ;
HOUSMAN, DE ;
SHAW, DJ .
NATURE, 1992, 355 (6360) :545-546
[9]  
HARPER PS, 1992, AM J HUM GENET, V51, P10
[10]   BENIGN FAMILIAL NEONATAL CONVULSIONS LINKED TO GENETIC-MARKERS ON CHROMOSOME-20 [J].
LEPPERT, M ;
ANDERSON, VE ;
QUATTLEBAUM, T ;
STAUFFER, D ;
OCONNELL, P ;
NAKAMURA, Y ;
LALOUEL, JM ;
WHITE, R .
NATURE, 1989, 337 (6208) :647-648
12