Document Detail

Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.
MedLine Citation:
PMID:  10995568     Owner:  NLM     Status:  MEDLINE    
Childhood absence epilepsy (CAE), one of the common idiopathic generalized epilepsies, accounts for 8 to 15% of all childhood epilepsies. Inherited as an autosomal dominant trait, frequent absence attacks start in early or midchildhood and disappear by 30 years of age or may persist through life. Recently, we mapped the locus for CAE persisting with tonic-clonic seizures to chromosome 8q24 (ECA1) by genetic linkage analysis. As a further step in the identification of the ECA1 gene, we constructed a bacterial artificial chromosome- and yeast artificial chromosome-based physical map for the 8q24 region, spanning about 3 Mb between D8S1710 and D8S523. Accurately ordered STS markers within the physical map aided in the analysis of haplotypes and recombinations and reduced the ECA1 region to 1.5 Mb flanked by D8S554 and D8S502. Pairwise analysis in six families confirmed linkage with a pooled lod score of 4.10 (θ = 0) at D8S534. The sequence-ready physical map as well as the narrowed candidate region described here should contribute to the identification of the ECA1 gene.
Y Sugimoto; R Morita; K Amano; C Y Fong; P U Shah; I P Castroviejo; S Khan; A V Delgado-Escueta; K Yamakawa
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genomics     Volume:  68     ISSN:  0888-7543     ISO Abbreviation:  Genomics     Publication Date:  2000 Sep 
Date Detail:
Created Date:  2000-11-16     Completed Date:  2000-11-16     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8800135     Medline TA:  Genomics     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  264-72     Citation Subset:  IM    
Copyright Information:
Copyright 2000 Academic Press.
Laboratory for Neurogenetics, Brain Science Institute, The Institute of Physical and Chemical Research (RIKEN), 2-1 Hirosawa, Wako-shi, Saitama, 351-0198, Japan.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/G64002;  G64003;  G64004;  G64005;  G64006;  G64007;  G64008;  G64009;  G64010;  G64011;  G64012;  G64013;  G64014;  G64015;  G64016;  G64017
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MeSH Terms
Base Sequence
Chromosome Mapping
Chromosomes, Artificial, Bacterial
Chromosomes, Artificial, Yeast
Chromosomes, Human, Pair 8*
DNA Primers
Epilepsy, Absence / genetics*
Epilepsy, Tonic-Clonic / genetics
Gene Library
Genetic Markers
Molecular Sequence Data
Grant Support
Reg. No./Substance:
0/DNA Primers; 0/Genetic Markers

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