| Title |
New Genes for Focal Epilepsies with Speech and Language Disorders
|
|---|---|
| Published in |
Current Neurology and Neuroscience Reports, April 2015
|
| DOI | 10.1007/s11910-015-0554-0 |
| Pubmed ID | |
| Authors |
Samantha J. Turner, Angela T. Morgan, Eliane Roulet Perez, Ingrid E. Scheffer |
| Abstract |
The last 2 years have seen exciting advances in the genetics of Landau-Kleffner syndrome and related disorders, encompassed within the epilepsy-aphasia spectrum (EAS). The striking finding of mutations in the N-methyl-D-aspartate (NMDA) receptor subunit gene GRIN2A as the first monogenic cause in up to 20 % of patients with EAS suggests that excitatory glutamate receptors play a key role in these disorders. Patients with GRIN2A mutations have a recognizable speech and language phenotype that may assist with diagnosis. Other molecules involved in RNA binding and cell adhesion have been implicated in EAS; copy number variations are also found. The emerging picture highlights the overlap between the genetic determinants of EAS with speech and language disorders, intellectual disability, autism spectrum disorders and more complex developmental phenotypes. |
X Demographics
The data shown below were collected from the profiles of 17 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 Kingdom | 7 | 41% |
| Sweden | 2 | 12% |
| Finland | 1 | 6% |
| Netherlands | 1 | 6% |
| Ireland | 1 | 6% |
| Unknown | 5 | 29% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 15 | 88% |
| Scientists | 2 | 12% |
Mendeley readers
The data shown below were compiled from readership statistics for 60 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 2% |
| Unknown | 59 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 11 | 18% |
| Other | 7 | 12% |
| Student > Bachelor | 7 | 12% |
| Student > Master | 7 | 12% |
| Student > Postgraduate | 6 | 10% |
| Other | 14 | 23% |
| Unknown | 8 | 13% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 23 | 38% |
| Neuroscience | 10 | 17% |
| Psychology | 9 | 15% |
| Agricultural and Biological Sciences | 2 | 3% |
| Biochemistry, Genetics and Molecular Biology | 1 | 2% |
| Other | 2 | 3% |
| Unknown | 13 | 22% |
Attention Score in Context
This research output has an Altmetric Attention Score of 10. 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 27 November 2015.
All research outputs
#3,492,047
of 25,199,243 outputs
Outputs from Current Neurology and Neuroscience Reports
#208
of 993 outputs
Outputs of similar age
#43,000
of 270,458 outputs
Outputs of similar age from Current Neurology and Neuroscience Reports
#9
of 20 outputs
Altmetric has tracked 25,199,243 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 993 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.3. This one has done well, scoring higher than 79% of its peers.
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 270,458 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 84% of its contemporaries.
We're also able to compare this research output to 20 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 60% of its contemporaries.