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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy
|
|---|---|
| Published in |
Frontiers in Neurology, May 2015
|
| DOI | 10.3389/fneur.2015.00104 |
| Pubmed ID | |
| Authors |
Jacy L. Wagnon, Miriam H. Meisler |
| Abstract |
Mutations of the voltage-gated sodium channel SCN8A have been identified in approximately 1% of nearly 1,500 children with early-infantile epileptic encephalopathies (EIEE) who have been tested by DNA sequencing. EIEE caused by mutation of SCN8A is designated EIEE13 (OMIM #614558). Affected children have seizure onset before 18 months of age as well as developmental and cognitive disabilities, movement disorders, and a high incidence of sudden death (SUDEP). EIEE13 is caused by de novo missense mutations of evolutionarily conserved residues in the Nav1.6 channel protein. One-third of the mutations are recurrent, and many occur at CpG dinucleotides. In this review, we discuss the effect of pathogenic mutations on the structure of the channel protein, the rate of recurrent mutation, and changes in channel function underlying this devastating disorder. |
X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 2 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 2 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 104 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 2% |
| United Kingdom | 1 | <1% |
| Argentina | 1 | <1% |
| Unknown | 100 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 24 | 23% |
| Researcher | 24 | 23% |
| Student > Bachelor | 15 | 14% |
| Professor > Associate Professor | 7 | 7% |
| Student > Doctoral Student | 6 | 6% |
| Other | 16 | 15% |
| Unknown | 12 | 12% |
| Readers by discipline | Count | As % |
|---|---|---|
| Neuroscience | 23 | 22% |
| Medicine and Dentistry | 23 | 22% |
| Agricultural and Biological Sciences | 19 | 18% |
| Biochemistry, Genetics and Molecular Biology | 10 | 10% |
| Psychology | 2 | 2% |
| Other | 7 | 7% |
| Unknown | 20 | 19% |
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 08 June 2015.
All research outputs
#18,409,030
of 22,803,211 outputs
Outputs from Frontiers in Neurology
#7,723
of 11,670 outputs
Outputs of similar age
#192,054
of 264,753 outputs
Outputs of similar age from Frontiers in Neurology
#55
of 75 outputs
Altmetric has tracked 22,803,211 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 11,670 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.4. This one is in the 25th percentile – i.e., 25% 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 264,753 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 16th percentile – i.e., 16% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 75 others from the same source and published within six weeks on either side of this one. This one is in the 10th percentile – i.e., 10% of its contemporaries scored the same or lower than it.