منابع مشابه
Copy number variants in absence epilepsy
Further complications of the picture After years of largely unsuccessful association studies attempting to detect genetic variants underlying common epilepsies, the recent identification of copy number variants (CNVs) in epilepsy has generated a lot of excitement. CNVs are defined as genomic deletions or duplications larger than 1 kb and up to several Mb in size. A proportion occur at genomic h...
متن کاملBIRC5 Genomic Copy Number Variation in Early-Onset Breast Cancer
Background: Baculoviral inhibitor of apoptosis repeat-containing 5 (BIRC5) gene is an inhibitor of apoptosis that expresses in human embryonic tissues but it is absent in most healthy adult tissues. The copy number of BIRC5 has been indicated to be highly increased in tumor tissues; however, its association with the age of onset in breast cancer is not well understood. Methods: Forty tumor tiss...
متن کاملNew ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation.
The majority of genes associated with epilepsy syndromes to date are ion channel genes. Selection bias may have allowed us to establish their role in epilepsy based on a priori knowledge of the significance of these proteins in regulating neuronal excitability. There are, however, more than 3000 genes expressed at the synapse, as well as many other genes expressed nearby in supporting cells and...
متن کاملGenome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Several genes have been identified in rare autosomal dominant and severe sporadic forms of epilepsy, but the genetic cause is unknown in the vast majority of cases. Copy number variants (CNVs) are known to play an important role in the genetic etiology of many neurodevelop...
متن کاملAssessment of mitochondrial DNA copy number in peripheral blood leukocyte of opiate abusers and healthy individuals
Background: Based on the studies, variation in the mitochondrial DNA (mtDNA) copy number in peripheral blood leukocytes is associated with increased susceptibility to diseases including cancer. Opiate abusers are at high risk for diseases. In this study, we measured the mtDNA copy number in peripheral blood leukocytes in a group of opiate abusers compared with those in healthy individuals. Met...
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ژورنال
عنوان ژورنال: Epilepsy Currents
سال: 2015
ISSN: 1535-7597,1535-7511
DOI: 10.5698/1535-7511-15.4.180