Evidence map›Paper›PMID 30868117›Full record

ArticleEpilepsia open2019

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.

Rima Nabbout, Elena Belousova, Mirjana P Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Lisa D Amato, Guillaume Beaure d'Augères, Petrus J de Vries and 20 more

Open access · goldAbstract read
In one paragraph

Article in Epilepsia open, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
104citing papers in PubMed, 4 pooled it
13.1field-weighted citation impact, top 1% 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

104 citing papers in PubMed, 4 syntheses or guidelines pooled it, 232 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Trial
  6. Trial
  7. Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?Annals of clinical and translational neurology · 2020
    Trial
  8. Article
  9. Article
  10. Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series.Annals of the Child Neurology Society · 2026
    Article
  11. Article
  12. Tuberous sclerosis complex.Nature reviews. Disease primers · 2026
    Review
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Insights into Tuberous Sclerosis Complex : From Genes to Clinics.Journal of Korean Neurosurgical Society · 2025
    Article
  20. Review

44 more citing papers are in PubMed but not listed here.

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

30 authors at 20 institutions in 21 countries.

Rima NabboutDepartment of Pediatric Neurology Necker Enfants Malades Hospital Paris Descartes University Paris France.
Elena BelousovaResearch and Clinical Institute of Pediatrics Pirogov Russian National Research Medical University Moscow Russian Federation.
Mirjana P BenedikSPS Paediatric Clinic Ljubljana Slovenia.
Tom CarterTSA Tuberous Sclerosis Association Nottingham UK.
Vincent CottinHôpital Louis Pradel Claude Bernard University Lyon 1 Lyon France.
Paolo CuratoloTor Vergata University Hospital Rome Italy.
Maria DahlinKarolinska University Hospital Stockholm Sweden.
Lisa D AmatoNovartis Farma S.p.A. Origgio Italy.
Guillaume Beaure d'AugèresTuberous Sclerosis Association of Bourneville Gradignan France.
Petrus J de VriesDivision of Child and Adolescent Psychiatry University of Cape Town Cape Town South Africa.
José C FerreiraCentro Hospitalar Lisboa Ocidental Lisbon Portugal.
Martha FeuchtDepartment of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria.
Carla FladrowskiTuberous Sclerosis Association ONLUS Milan Italy.
Christoph HertzbergVivantes Hospital Neukoelln Berlin Germany.
Sergiusz JozwiakDepartment of Child Neurology Warsaw Medical University Warsaw Puerto Rico.
John A LawsonThe Tuberous Sclerosis Multidisciplinary Management Clinic Sydney Children's Hospital Randwick NSW Australia.
Alfons MacayaVall d'Hebron University Hospital Barcelona Spain.
Ruben MarquesNovartis Farma S.p.A. Origgio Italy.
Finbar O'CallaghanInstitute of Child Health University College London London UK.
Jiong QinDepartment of Pediatrics Peking University People's Hospital (PKUPH) Beijing China.
Valentin SanderTallinn Children Hospital Tallinn Estonia.
Matthias SauterClinic Group Kempten-Oberallgaeu GmbH Kempten Germany.
Seema ShahNovartis Healthcare Pvt. Ltd. Hyderabad India.
Yukitoshi TakahashiNational Epilepsy Center Shizuoka Institute of Epilepsy and Neurological Disorders NHO Shizuoka Japan.
Renaud TouraineDepartment of Genetics CHU-Hôpital Nord Saint Etienne France.
Sotiris YouroukosSt. Sophia Children's Hospital Athens Greece.
Bernard ZonnenbergUniversity Medical Center Utrecht The Netherlands.
Anna JansenPediatric Neurology Unit Department of Pediatrics UZ Brussel VUB Brussels Belgium.
John C KingswoodCardiology Clinical Academic Group, Molecular and Clinical Sciences Research Centre St Georges University of London London UK.
TOSCA Consortium and TOSCA Investigators
Tuberous Sclerosis Association · GBNovartis (Italy) · ITCentro Hospitalar de Lisboa Ocidental · PTChildren's Hospital Agia Sophia · GREast Tallinn Central Hospital · EEHôpital Louis Pradel · FRHôpital Necker-Enfants Malades · FRHôpital Nord · FRKarolinska University Hospital · SEKempten University of Applied Sciences · DEMathys (Netherlands) · NLMedical University of Vienna · ATMedical University of Warsaw · PLNational Epilepsy Center · JPNovartis (India) · INPeking University People's Hospital · CNPirogov Russian National Research Medical University · RUSt George's, University of London · GBSydney Children's Hospital · AUUniversity College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo present the baseline data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with emphasis on the characteristics of epilepsies associated with tuberous sclerosis complex (TSC).

methodsRetrospective and prospective patients' data on all aspects of TSC were collected from multiple countries worldwide. Epilepsy variables included seizure type, age at onset, type of treatment, and treatment outcomes and association with genotype, seizures control, and intellectual disability. As for noninterventional registries, the study protocol did not specify any particular clinical instruments, laboratory investigations, or intervention. Evaluations included those required for diagnosis and management following local best practice.

resultsEpilepsy was reported in 83.6% of patients (1852/2216) at baseline; 38.9% presented with infantile spasms and 67.5% with focal seizures. The mean age at diagnosis of infantile spasms was 0.4 year (median <1 year; range <1-30 years) and at diagnosis of focal seizures was 2.7 years (median 1 year; range <1-66 years). A total of 1469 patients (79.3%) were diagnosed with epilepsy <2 years. The rate of infantile spasms was higher in patients with a SIGNIFICANCE: This registry reports the largest international cohort of patients with TSC. Findings confirmed the typical onset pattern of infantile spasms and other focal seizures in the first 2 years of life, and the high rates of infantile spasms in patients with

Indexed as

epilepsyregistryTOSCAtuberous sclerosis complex

Identifiers

PMID30868117
PMCPMC6398114
OpenAlexW2900828529

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.