ArticleEuropean journal of human genetics : EJHG2012
Genotype and cognitive phenotype of patients with tuberous sclerosis complex.
Article in European journal of human genetics : EJHG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 2 of them syntheses that pooled it.
What it found
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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.
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.
Who cites it
50 citing papers in PubMed, 2 syntheses or guidelines pooled it, 109 citations in OpenAlex.
- Brain volumes in genetic syndromes associated with mTOR dysregulation: a systematic review and meta-analysis.Molecular psychiatry · 2025Pooled it
- Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders: The Power of 1.Neurology · 2021Pooled it
- Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?Annals of clinical and translational neurology · 2020Trial
- Epilepsy and disability in adults with tuberous sclerosis complex: a 16-year retrospective analysis.Journal of neurology · 2026Article
- A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic.Clinical genetics · 2026Article
- Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1.Journal of autism and developmental disorders · 2026Article
- Late diagnosis and effective everolimus treatment in a familial case of tuberous sclerosis complex: a case report.Frontiers in genetics · 2026Article
- Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.Scientific reports · 2025Article
- Tuberous Sclerosis Complex: A Case Series from a Romanian Genetics Center and a Review of the Literature.Journal of clinical medicine · 2025Article
- Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.Neurogenetics · 2024Observational
- Review
- Identification of a novel TSC1 gene variant in a patient with atypical vitiligo-like skin lesions: Unveiling the hidden tuberous sclerosis complex.Molecular genetics & genomic medicine · 2024Article
- Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.BMC medicine · 2023Article
- Determining the neurocognitive profile of children with tuberous sclerosis complex within the Western Cape region of South Africa.Journal of intellectual disability research : JIDR · 2023Article
- Tsc2 mutation rather than Tsc1 mutation dominantly causes a social deficit in a mouse model of tuberous sclerosis complex.Human genomics · 2023Article
- Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China.Orphanet journal of rare diseases · 2022Review
- Risk Factors Associated with Refractory Epilepsy in Patients with Tuberous Sclerosis Complex: A Systematic Review.Journal of clinical medicine · 2021Review
- RHOA signaling defects result in impaired axon guidance in iPSC-derived neurons from patients with tuberous sclerosis complex.Nature communications · 2021Article
- HIV-negative case ofThe Journal of international medical research · 2021Article
- Epilepsy in the mTORopathies: opportunities for precision medicine.Brain communications · 2021Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder, which affects 1 in 6000 people. About half of these patients are affected by mental retardation, which has been associated with TSC2 mutations, epilepsy severity and tuber burden. The bimodal intelligence distribution in TSC populations suggests the existence of subgroups with distinct pathophysiologies, which remain to be identified. Furthermore, it is unknown if heterozygous germline mutations in TSC2 can produce the neurocognitive phenotype of TSC independent of epilepsy and tubers. Genotype-phenotype correlations may help to determine risk profiles and select patients for targeted treatments. A retrospective chart review was performed, including a large cohort of 137 TSC patients who received intelligence assessment and genetic mutation analysis. The distribution of intellectual outcomes was investigated for selected genotypes. Genotype-neurocognitive phenotype correlations were performed and associations between specific germline mutations and intellectual outcomes were compared. Results showed that TSC1 mutations in the tuberin interaction domain were significantly associated with lower intellectual outcomes (P<0.03), which was also the case for TSC2 protein-truncating and hamartin interaction domain mutations (both P<0.05). TSC2 missense mutations and small in-frame deletions were significantly associated with higher IQ/DQs (P<0.05). Effects related to the mutation location within the TSC2 gene were found. These findings suggest that TSC2 protein-truncating mutations and small in-frame mutations are associated with distinctly different intelligence profiles, providing further evidence that different types and locations of TSC germline mutations may be associated with distinct neurocognitive phenotypes.
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Registered trials
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