You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output.
Click here to find out more.
X Demographics
Mendeley readers
Attention Score in Context
| Title |
FHF1 (FGF12) epileptic encephalopathy
|
|---|---|
| Published in |
Neurology: Genetics, October 2016
|
| DOI | 10.1212/nxg.0000000000000115 |
| Pubmed ID | |
| Authors |
Sameer Al-Mehmadi, Miranda Splitt, Venkateswaran Ramesh, Suzanne DeBrosse, Kimberly Dessoffy, Fan Xia, Yaping Yang, Jill A. Rosenfeld, Patrick Cossette, Jacques L. Michaud, Fadi F. Hamdan, Philippe M. Campeau, Berge A. Minassian, Jeffrey Barrett, Matthew Hurles |
| Abstract |
Voltage-gated sodium channels (Navs) are mainstays of neuronal function, and mutations in the genes encoding CNS Navs (Nav1.1 [SCN1A], Nav1.2 [SCN2A], Nav1.3 [SCN3A], and Nav1.6 [SCN8A]) are causes of some of the most common and severe genetic epilepsies and epileptic encephalopathies (EE).(1) Fibroblast-growth-factor homologous factors (FHFs) compose a family of 4 proteins that interact with the C-terminal tails of Navs to modulate the channels' fast, and long-term, inactivations.(2)FHF2 mutation is a rare cause of generalized epilepsy with febrile seizures plus (GEFS+).(3) Recently, a de novo FHF1 mutation (p.R52H) was reported in early-onset EE in 2 siblings.(4) We report 3 patients from unrelated families with the same FHF1 p.R52H mutation. The 5 cases together frame the FHF1 R52H EE from infancy to adulthood. As discussed below, this gain-of-function disease may be amenable to personalized therapy. |
X Demographics
The data shown below were collected from the profiles of 12 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| India | 1 | 8% |
| Brazil | 1 | 8% |
| United Kingdom | 1 | 8% |
| Saudi Arabia | 1 | 8% |
| United States | 1 | 8% |
| Unknown | 7 | 58% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 11 | 92% |
| Practitioners (doctors, other healthcare professionals) | 1 | 8% |
Mendeley readers
The data shown below were compiled from readership statistics for 40 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United Kingdom | 1 | 3% |
| Unknown | 39 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 8 | 20% |
| Student > Ph. D. Student | 6 | 15% |
| Student > Master | 4 | 10% |
| Student > Doctoral Student | 3 | 8% |
| Other | 3 | 8% |
| Other | 6 | 15% |
| Unknown | 10 | 25% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 10 | 25% |
| Biochemistry, Genetics and Molecular Biology | 8 | 20% |
| Agricultural and Biological Sciences | 3 | 8% |
| Neuroscience | 2 | 5% |
| Immunology and Microbiology | 1 | 3% |
| Other | 3 | 8% |
| Unknown | 13 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 8. 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 February 2017.
All research outputs
#4,850,922
of 25,604,262 outputs
Outputs from Neurology: Genetics
#333
of 706 outputs
Outputs of similar age
#73,636
of 321,260 outputs
Outputs of similar age from Neurology: Genetics
#4
of 21 outputs
Altmetric has tracked 25,604,262 research outputs across all sources so far. Compared to these this one has done well and is in the 81st percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 706 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 11.2. This one has gotten more attention than average, scoring higher than 52% 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 321,260 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 77% of its contemporaries.
We're also able to compare this research output to 21 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 80% of its contemporaries.