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Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation

Overview of attention for article published in Molecular Brain, May 2016
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Title
Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation
Published in
Molecular Brain, May 2016
DOI 10.1186/s13041-016-0222-6
Pubmed ID
Authors

Su-Kyeong Hwang, Jae-Hyung Lee, Jung-eun Yang, Chae-Seok Lim, Jin-A Lee, Yong-Seok Lee, Kyungmin Lee, Bong-Kiun Kaang

Abstract

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multiple symptoms including neuropsychological deficits such as seizures, intellectual disability, and autism. TSC is inherited in an autosomal dominant pattern and is caused by mutations in either the TSC1 or TSC2 genes, which enhance activation of the mammalian target of rapamycin (mTOR) signaling pathway. Recent studies have suggested that mTOR inhibitors such as rapamycin can reverse TSC-associated deficits in rodent models of TSC. In addition, clinical trials are ongoing to test the efficacy of mTOR inhibitors toward the psychiatric symptoms associated with TSC. Here, we report a case study of a Korean patient with TSC, who exhibited multiple symptoms including frequent seizures, intellectual disability, language delays, and social problems. We performed whole exome sequencing and identified a novel small deletion mutation in TSC2. Expressing the novel deletion mutant in HEK293T cells significantly increased mTOR pathway activation. Furthermore, everolimus treatment showed not only reduction in SEGA size, but dramatically improved behavioral deficits including autism related behaviors in the patient. In summary, we identified a novel small deletion mutation in TSC2 associated with severe TSC in a Korean family that enhances the activation of mTOR signaling in vitro. Everolimus treatment improved behavioral deficits in the patient.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 92 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 92 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 14 15%
Student > Master 14 15%
Student > Bachelor 10 11%
Student > Ph. D. Student 10 11%
Student > Doctoral Student 5 5%
Other 16 17%
Unknown 23 25%
Readers by discipline Count As %
Medicine and Dentistry 19 21%
Psychology 17 18%
Neuroscience 12 13%
Biochemistry, Genetics and Molecular Biology 8 9%
Nursing and Health Professions 2 2%
Other 6 7%
Unknown 28 30%
Attention Score in Context

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 30 May 2016.
All research outputs
#19,945,185
of 25,374,917 outputs
Outputs from Molecular Brain
#802
of 1,198 outputs
Outputs of similar age
#250,294
of 348,586 outputs
Outputs of similar age from Molecular Brain
#25
of 32 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 18th percentile – i.e., 18% of other outputs scored the same or lower than it.
So far Altmetric has tracked 1,198 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.9. This one is in the 22nd percentile – i.e., 22% of its peers scored the same or lower than it.
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We're also able to compare this research output to 32 others from the same source and published within six weeks on either side of this one. This one is in the 15th percentile – i.e., 15% of its contemporaries scored the same or lower than it.