| Title |
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy
|
|---|---|
| Published in |
Neuroscience Bulletin, May 2017
|
| DOI | 10.1007/s12264-017-0134-1 |
| Pubmed ID | |
| Authors |
Feng Wei, Li-Min Yan, Tao Su, Na He, Zhi-Jian Lin, Jie Wang, Yi-Wu Shi, Yong-Hong Yi, Wei-Ping Liao |
| Abstract |
Ion channels are crucial in the generation and modulation of excitability in the nervous system and have been implicated in human epilepsy. Forty-one epilepsy-associated ion channel genes and their mutations are systematically reviewed. In this paper, we analyzed the genotypes, functional alterations (funotypes), and phenotypes of these mutations. Eleven genes featured loss-of-function mutations and six had gain-of-function mutations. Nine genes displayed diversified funotypes, among which a distinct funotype-phenotype correlation was found in SCN1A. These data suggest that the funotype is an essential consideration in evaluating the pathogenicity of mutations and a distinct funotype or funotype-phenotype correlation helps to define the pathogenic potential of a gene. |
X Demographics
The data shown below were collected from the profile of 1 X user 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 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 159 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 159 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 25 | 16% |
| Student > Bachelor | 23 | 14% |
| Student > Ph. D. Student | 16 | 10% |
| Researcher | 14 | 9% |
| Student > Postgraduate | 7 | 4% |
| Other | 16 | 10% |
| Unknown | 58 | 36% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 28 | 18% |
| Neuroscience | 25 | 16% |
| Medicine and Dentistry | 16 | 10% |
| Agricultural and Biological Sciences | 12 | 8% |
| Pharmacology, Toxicology and Pharmaceutical Science | 6 | 4% |
| Other | 15 | 9% |
| Unknown | 57 | 36% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. 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 November 2020.
All research outputs
#4,645,100
of 22,971,207 outputs
Outputs from Neuroscience Bulletin
#176
of 778 outputs
Outputs of similar age
#81,741
of 310,718 outputs
Outputs of similar age from Neuroscience Bulletin
#7
of 21 outputs
Altmetric has tracked 22,971,207 research outputs across all sources so far. Compared to these this one has done well and is in the 79th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 778 research outputs from this source. They receive a mean Attention Score of 4.0. This one has done well, scoring higher than 77% of its peers.
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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 gotten more attention than average, scoring higher than 66% of its contemporaries.