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Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report

Overview of attention for article published in BMC Psychiatry, August 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (70th percentile)

Mentioned by

blogs
1 blog
facebook
1 Facebook page

Citations

dimensions_citation
2 Dimensions

Readers on

mendeley
25 Mendeley
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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 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 25 100%

Demographic breakdown

Readers by professional status Count As %
Student > Doctoral Student 4 16%
Researcher 4 16%
Student > Ph. D. Student 3 12%
Student > Master 3 12%
Student > Bachelor 3 12%
Other 3 12%
Unknown 5 20%
Readers by discipline Count As %
Psychology 5 20%
Medicine and Dentistry 4 16%
Biochemistry, Genetics and Molecular Biology 3 12%
Neuroscience 3 12%
Nursing and Health Professions 3 12%
Other 2 8%
Unknown 5 20%

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
#3,437,126
of 14,687,610 outputs
Outputs from BMC Psychiatry
#1,227
of 3,294 outputs
Outputs of similar age
#80,593
of 275,086 outputs
Outputs of similar age from BMC Psychiatry
#1
of 1 outputs
Altmetric has tracked 14,687,610 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,294 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 10.5. This one has gotten more attention than average, scoring higher than 60% 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 275,086 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 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them