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X Demographics
Mendeley readers
Attention Score in Context
| Title |
W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report
|
|---|---|
| Published in |
BMC Medical Genomics, August 2016
|
| DOI | 10.1186/s12881-016-0317-z |
| Pubmed ID | |
| Authors |
Loai Elsaadany, Mahmoud El-Said, Rehab Ali, Hussein Kamel, Tawfeg Ben-Omran |
| Abstract |
WW domain containing oxidoreductase (WWOX) gene was cloned in 2000; alteration has been seen in many cancer cells. It acts as a tumor suppresser by blocking cell growth and causing apoptosis. WWOX protein showed different expression of mice brain and spinal cord, for which deletion causes seizure and early death. Clinical and molecular characteristics of a consanguineous family show a homozygous mutation of WWOX gene at specific bases, causing a debilitating syndrome characterized by growth retardation, intractable epilepsy, intellectual disability, and early death. Using Whole Exome Sequencing (WES), a novel homozygous mutation in the WWOX gene is identified in a consanguineous Arab family from Qatar with two daughters who presented with intractable seizure and developmental delay. The study presents the importance of human WWOX gene for brain development and the association between gene mutation and epileptic encephalopathy. It also highlights the power of WES particularly in clinically challenging cases. |
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 % |
|---|---|---|
| United States | 1 | 33% |
| Unknown | 2 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 67% |
| Scientists | 1 | 33% |
Mendeley readers
The data shown below were compiled from readership statistics for 39 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 39 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 7 | 18% |
| Other | 4 | 10% |
| Student > Master | 4 | 10% |
| Researcher | 4 | 10% |
| Professor | 3 | 8% |
| Other | 6 | 15% |
| Unknown | 11 | 28% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 10 | 26% |
| Neuroscience | 6 | 15% |
| Biochemistry, Genetics and Molecular Biology | 4 | 10% |
| Nursing and Health Professions | 2 | 5% |
| Sports and Recreations | 2 | 5% |
| Other | 2 | 5% |
| Unknown | 13 | 33% |
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 21 August 2016.
All research outputs
#16,722,190
of 25,374,917 outputs
Outputs from BMC Medical Genomics
#1,194
of 2,444 outputs
Outputs of similar age
#242,849
of 381,572 outputs
Outputs of similar age from BMC Medical Genomics
#24
of 46 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 32nd percentile – i.e., 32% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 46th percentile – i.e., 46% 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 381,572 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 33rd percentile – i.e., 33% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 46 others from the same source and published within six weeks on either side of this one. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.