ArticleMolecular brain2016
Everolimus improves neuropsychiatric symptoms in a patient with tuberous sclerosis carrying a novel TSC2 mutation.
Article in Molecular brain, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 38 citations in OpenAlex.
- Acute rapamycin treatment reveals distinct mechanisms of dysfunction in a maternal inflammation mouse model.Nature communications · 2026Article
- Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.Scientific reports · 2025Article
- Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Review
- Prenatal mTOR Inhibitors in Tuberous Sclerosis Complex: Current Insights and Future Directions.Journal of clinical medicine · 2024Review
- Genetic and Environmental Contributions to Autism Spectrum Disorder Through Mechanistic Target of Rapamycin.Biological psychiatry global open science · 2022Review
- Monitoring and Managing Patients with Tuberous Sclerosis Complex: Current State of Knowledge.Journal of multidisciplinary healthcare · 2022Review
- Mitochondrial morphology is associated with respiratory chain uncoupling in autism spectrum disorder.Translational psychiatry · 2021Article
- Sensitive period for rescuing parvalbumin interneurons connectivity and social behavior deficits caused by TSC1 loss.Nature communications · 2021Article
- The Characterization of a Subependymal Giant Astrocytoma-Like Cell Line from Murine Astrocyte with mTORC1 Hyperactivation.International journal of molecular sciences · 2021Article
- The Effect of Everolimus on Subependymal Giant Cell Astrocytoma (SEGA) in Children with Tuberous Sclerosis Complex.Iranian journal of child neurology · 2021Article
- Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project.Journal of neurodevelopmental disorders · 2020Article
- Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.Orphanet journal of rare diseases · 2019Article
- Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.Scientific reports · 2019Article
- Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice.Scientific reports · 2019Article
- Effects of rapamycin on social interaction deficits and gene expression in mice exposed to valproic acid in utero.Molecular brain · 2019Article
- mTOR-Related Brain Dysfunctions in Neuropsychiatric Disorders.International journal of molecular sciences · 2018Review
- In vivo brain GPCR signaling elucidated by phosphoproteomics.Science (New York, N.Y.) · 2018Article
- New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.Human molecular genetics · 2017Article
- From Gene to Behavior: L-Type Calcium Channel Mechanisms Underlying Neuropsychiatric Symptoms.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2017Review
- mTOR inhibitors in the pharmacologic management of tuberous sclerosis complex and their potential role in other rare neurodevelopmental disorders.Orphanet journal of rare diseases · 2017Review
Corrections and comments
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Authors and funding
8 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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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