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Mendeley readers
Attention Score in Context
| Title |
Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report
|
|---|---|
| Published in |
BMC Psychiatry, August 2018
|
| DOI | 10.1186/s12888-018-1822-8 |
| Pubmed ID | |
| Authors |
Kathrin Nickel, Ludger Tebartz van Elst, Katharina Domschke, Birgitta Gläser, Friedrich Stock, Dominique Endres, Simon Maier, Andreas Riedel |
| Abstract |
Mutations in voltage-gated sodium channel (SCN) genes are supposed to be of importance in the etiology of psychiatric and neurological diseases, in particular in the etiology of seizures. Previous studies report a potential susceptibility region at the chromosomal locus 2q including SCN1A, SCN2A and SCN3A genes for autism spectrum disorder (ASD). To date, there is no previous description of a patient with comorbid ASD and Tourette syndrome showing a deletion containing SCN2A and SCN3A. We present the unique complex case of a 28-year-old male patient suffering from developmental retardation and exhibiting a range of behavioral traits since birth. He received the diagnoses of ASD (in early childhood) and of Tourette syndrome (in adulthood) according to ICD-10 and DSM-5 criteria. Investigations of underlying genetic factors yielded a heterozygous microdeletion of approximately 719 kb at 2q24.3 leading to a deletion encompassing the five genes SCN2A (exon 1 to intron 14-15), SCN3A, GRB14 (exon 1 to intron 2-3), COBLL1 and SCL38A11. We discuss the association of SCN2A, SCN3A, GRB14, COBLL1 and SCL38A11 deletions with ASD and Tourette syndrome and possible implications for treatment. |
Mendeley readers
The data shown below were compiled from readership statistics for 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 48 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 8 | 17% |
| Student > Ph. D. Student | 5 | 10% |
| Student > Bachelor | 4 | 8% |
| Researcher | 4 | 8% |
| Student > Doctoral Student | 3 | 6% |
| Other | 8 | 17% |
| Unknown | 16 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Psychology | 8 | 17% |
| Neuroscience | 6 | 13% |
| Biochemistry, Genetics and Molecular Biology | 5 | 10% |
| Medicine and Dentistry | 5 | 10% |
| Nursing and Health Professions | 3 | 6% |
| Other | 5 | 10% |
| Unknown | 16 | 33% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. 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 02 August 2018.
All research outputs
#5,717,257
of 23,098,660 outputs
Outputs from BMC Psychiatry
#1,920
of 4,771 outputs
Outputs of similar age
#97,708
of 331,122 outputs
Outputs of similar age from BMC Psychiatry
#67
of 100 outputs
Altmetric has tracked 23,098,660 research outputs across all sources so far. Compared to these this one has done well and is in the 75th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 4,771 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 11.9. This one has gotten more attention than average, scoring higher than 57% 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 331,122 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 70% of its contemporaries.
We're also able to compare this research output to 100 others from the same source and published within six weeks on either side of this one. This one is in the 21st percentile – i.e., 21% of its contemporaries scored the same or lower than it.