当前位置： SCI文献检索 > MOLECULAR AND CELLULAR PROBES期刊下所有文献 > Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsy.

Mutation screening of the chromosome 8q24.3-human activity-regulated cytoskeleton-associated gene (ARC) in idiopathic generalized epilepsy.

Abstract：

:Idiopathic generalized epilepsy (IGE) comprises a heterogeneous group of disorders, in which a high genetic predisposition and a complex mode of inheritance have been suggested. However, genes, which confer liability to common IGE subtypes including juvenile myoclonic epilepsy (JME) and childhood absence epilepsy (CAE) have not been identified so far. Here, we tested the hypothesis that genetic variation in the human homolog of the (ARC) contributes to the etiology of common IGE disorders. The gene has recently been mapped to chromosome 8q24.3, a region which spans previously identified major IGE susceptibility loci. A systematic search for mutations was performed in 143 patients with a known family history of IGE. However, no evidence for functional variants was found in the ARC coding sequence. Nevertheless, we detected a novel common C489T single nucleotide polymorphism, which provides a useful marker in genetic linkage and association studies. By performing a population- and family-based study we however failed to show significant association between this novel single nucleotide polymorphism and IGE, a finding, which most likely rules out that genetic variation in or close to the ARC gene confers liability to common IGE subtypes.

journal_name

Mol Cell Probes

journal_title

Molecular and cellular probes

authors

Haug K,Kremerskothen J,Hallmann K,Sander T,Dullinger J,Rau B,Beyenburg S,Lentze MJ,Barnekow A,Elger CE,Propping P,Heils A

doi

10.1006/mcpr.2000.0314

subject

Has Abstract

pub_date

2000-08-01 00:00:00

pages

255-60

issue

4

eissn

0890-8508

issn

1096-1194

pii

S0890-8508(00)90314-1

journal_volume

14

pub_type

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