Title |
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis
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Published in |
BMC Neurology, December 2013
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DOI | 10.1186/1471-2377-13-209 |
Pubmed ID | |
Authors |
Xiaoling Yang, Yuehua Zhang, Xiaojing Xu, Shuang Wang, Zhixian Yang, Ye Wu, Xiaoyan Liu, Xiru Wu |
Abstract |
Mutations in the PRRT2 gene have been identified as the major cause of benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with paroxysmal choreoathetosis/dyskinesias (ICCA). Here, we analyzed the phenotypes and PRRT2 mutations in Chinese families with BFIE and ICCA. |
X Demographics
The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
Country | Count | As % |
---|---|---|
Egypt | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 50% |
Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 23 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 23 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 5 | 22% |
Student > Ph. D. Student | 3 | 13% |
Other | 2 | 9% |
Student > Bachelor | 2 | 9% |
Lecturer | 1 | 4% |
Other | 3 | 13% |
Unknown | 7 | 30% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 7 | 30% |
Biochemistry, Genetics and Molecular Biology | 2 | 9% |
Neuroscience | 2 | 9% |
Psychology | 1 | 4% |
Business, Management and Accounting | 1 | 4% |
Other | 2 | 9% |
Unknown | 8 | 35% |
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 26 December 2013.
All research outputs
#15,289,831
of 22,738,543 outputs
Outputs from BMC Neurology
#1,480
of 2,426 outputs
Outputs of similar age
#191,575
of 306,848 outputs
Outputs of similar age from BMC Neurology
#44
of 67 outputs
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