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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel
|
|---|---|
| Published in |
Frontiers in Neurology, July 2018
|
| DOI | 10.3389/fneur.2018.00515 |
| Pubmed ID | |
| Authors |
Meng-Han Tsai, Chung-Kin Chan, Ying-Chao Chang, Chih-Hsiang Lin, Chia-Wei Liou, Wen-Neng Chang, Ching-Ching Ng, Kheng-Seang Lim, Daw-Yang Hwang |
| Abstract |
Objective: Focal epilepsy is the most common subtype of epilepsies in which the influence of underlying genetic factors is emerging but remains largely uncharacterized. The purpose of this study is to determine the contribution of currently known disease-causing genes in a large cohort (n = 593) of common focal non-lesional epilepsy patients. Methods: The customized focal epilepsy gene panel (21 genes) was based on multiplex polymerase chain reaction (PCR) and sequenced by Illumina MiSeq platform. Results: Eleven variants (1.85%) were considered as pathogenic or likely pathogenic, including seven novel mutations. There were three SCN1A (p.Leu890Pro, p.Arg1636Ter, and p.Met1714Val), three PRRT2 (two p.Arg217Profs*8 and p.Leu298Pro), two CHRNA4 (p.Ser284Leu, p.Ile321Asn), one DEPDC5 (p.Val516Ter), one PCDH19 (p.Asp233Asn), and one SLC2A1 (p.Ser414Ter) variants. Additionally, 16 other rare variants were classified as unknown significance due to inconsistent phenotype or lack of segregation data. Conclusion: Currently known focal epilepsy genes only explained a very small subset of focal epilepsy patients. This indicates that the underlying genetic architecture of focal epilepsies is very heterogeneous and more novel genes are likely to be discovered. Our study highlights the usefulness, challenges and limitations of using the multi-gene panel as a diagnostic test in routine clinical practice in patients with focal epilepsy. |
X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 20 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 4 | 20% |
| Student > Ph. D. Student | 4 | 20% |
| Other | 3 | 15% |
| Professor | 1 | 5% |
| Researcher | 1 | 5% |
| Other | 2 | 10% |
| Unknown | 5 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 3 | 15% |
| Biochemistry, Genetics and Molecular Biology | 2 | 10% |
| Neuroscience | 2 | 10% |
| Agricultural and Biological Sciences | 2 | 10% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 5% |
| Other | 4 | 20% |
| Unknown | 6 | 30% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 09 July 2018.
All research outputs
#18,641,800
of 23,094,276 outputs
Outputs from Frontiers in Neurology
#7,903
of 12,012 outputs
Outputs of similar age
#252,936
of 327,716 outputs
Outputs of similar age from Frontiers in Neurology
#205
of 320 outputs
Altmetric has tracked 23,094,276 research outputs across all sources so far. This one is in the 11th percentile – i.e., 11% of other outputs scored the same or lower than it.
So far Altmetric has tracked 12,012 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.3. This one is in the 24th percentile – i.e., 24% of its peers scored the same or lower than it.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 327,716 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 12th percentile – i.e., 12% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 320 others from the same source and published within six weeks on either side of this one. This one is in the 23rd percentile – i.e., 23% of its contemporaries scored the same or lower than it.