Evidence map›Paper›PMID 34206526›Full record

ReviewInternational journal of molecular sciences2021

Brain Symptoms of Tuberous Sclerosis Complex: Pathogenesis and Treatment.

Masashi Mizuguchi, Maki Ohsawa, Hirofumi Kashii, Atsushi Sato

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
3.6field-weighted citation impact, top 6% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

18 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Excess Wnt in neurological disease.The Biochemical journal · 2025
    Review
  4. Article
  5. Article
  6. Review
  7. Review
  8. Article
  9. Article
  10. Review
  11. Review
  12. Tuberous Sclerosis Complex in a 17-month-old: A Case Report.JNMA; journal of the Nepal Medical Association · 2023
    Article
  13. New Insights into the Regulation of mTOR Signaling via CaInternational journal of molecular sciences · 2023
    Review
  14. Article
  15. TheFrontiers in molecular neuroscience · 2023
    Article
  16. Review
  17. Review
  18. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 3 institutions in 1 country.

Masashi MizuguchiDepartment of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.ORCID 0000-0002-3172-6221
Maki OhsawaDepartment of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033, Japan.
Hirofumi KashiiDepartment of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan.
Atsushi SatoDepartment of Pediatrics, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo 113-8655, Japan.
National Rehabilitation Center for Persons with Disabilities · JPThe University of Tokyo · JPTokyo Metropolitan Neurological Hospital · JP

Funding

National Institute of Public Health, Japan 20FC1043
6 · The paper itself

Abstract

The mammalian target of the rapamycin (mTOR) system plays multiple, important roles in the brain, regulating both morphology, such as cellular size, shape, and position, and function, such as learning, memory, and social interaction. Tuberous sclerosis complex (TSC) is a congenital disorder caused by a defective suppressor of the mTOR system, the TSC1/TSC2 complex. Almost all brain symptoms of TSC are manifestations of an excessive activity of the mTOR system. Many children with TSC are afflicted by intractable epilepsy, intellectual disability, and/or autism. In the brains of infants with TSC, a vicious cycle of epileptic encephalopathy is formed by mTOR hyperactivity, abnormal synaptic structure/function, and excessive epileptic discharges, further worsening epilepsy and intellectual/behavioral disorders. Molecular target therapy with mTOR inhibitors has recently been proved to be efficacious for epilepsy in human TSC patients, and for autism in TSC model mice, indicating the possibility for pharmacological treatment of developmental synaptic disorders.

Indexed as

AnimalsBrainDisease ManagementDisease Models, AnimalDisease SusceptibilityEpilepsyGenetic Predisposition to DiseaseHumansSymptom AssessmentTOR Serine-Threonine KinasesTuberous SclerosisTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinMTOR protein, humanTOR Serine-Threonine KinasesTSC1 protein, humanTSC2 protein, humanTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 Proteinautismepilepsyepileptic encephalopathyintellectual disabilitymTOR inhibitormTORopathyTSC

Identifiers

PMID34206526
PMCPMC8268912
OpenAlexW3173830795

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.