| Title |
CNVs in Epilepsy
|
|---|---|
| Published in |
Current Genetic Medicine Reports, June 2014
|
| DOI | 10.1007/s40142-014-0046-6 |
| Pubmed ID | |
| Authors |
Heather C. Mefford |
| Abstract |
Copy number variants (CNVs) are deletions or duplications of DNA. CNVs have been increasingly recognized as an important source of both normal genetic variation and pathogenic mutation. Technologies for genome-wide discovery of CNVs facilitate studies of large cohorts of patients and controls to identify CNVs that cause increased risk for disease. Over the past 5 years, studies of patients with epilepsy confirm that both recurrent and non-recurrent CNVs are an important source of mutation for patients with various forms of epilepsy. Here, we will review the latest findings and explore the clinical implications. |
X Demographics
The data shown below were collected from the profiles of 3 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Ireland | 1 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 51 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Colombia | 1 | 2% |
| Unknown | 50 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 11 | 22% |
| Student > Master | 7 | 14% |
| Student > Doctoral Student | 5 | 10% |
| Researcher | 5 | 10% |
| Student > Bachelor | 4 | 8% |
| Other | 9 | 18% |
| Unknown | 10 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 11 | 22% |
| Agricultural and Biological Sciences | 11 | 22% |
| Medicine and Dentistry | 10 | 20% |
| Neuroscience | 8 | 16% |
| Computer Science | 1 | 2% |
| Other | 0 | 0% |
| Unknown | 10 | 20% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 03 July 2014.
All research outputs
#14,782,376
of 22,758,248 outputs
Outputs from Current Genetic Medicine Reports
#60
of 115 outputs
Outputs of similar age
#127,018
of 227,594 outputs
Outputs of similar age from Current Genetic Medicine Reports
#2
of 9 outputs
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