ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.
- Burden of illness in tuberous sclerosis complex-associated epilepsy: a systematic literature review of epidemiology, health-related quality of life, costs and resource use.Orphanet journal of rare diseases · 2025Pooled it
- Novel Frameshift Deletion Pathogenic Variant Characterization in Tuberous Sclerosis-2 Using Exome Sequencing and Molecular Dynamics Simulation.Biochemical genetics · 2026Article
- Genotypic and phenotypic features of 23 Egyptian patients with tuberous sclerosis complex.BMC pediatrics · 2026Observational
- Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series.Annals of the Child Neurology Society · 2026Article
- Molecular Diagnosis in Patients With Tuberous Sclerosis Complex: A Deep Sequencing Approach in Clinical Practice.Cureus · 2026Article
- Electrographic-only seizures and status epilepticus in neonates with Tuberous Sclerosis Complex.Pediatric research · 2026Article
- The phosphoproteomic landscape of the neurological manifestations in tuberous sclerosis complex.Acta neuropathologica · 2026Article
- Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening.European journal of human genetics : EJHG · 2026Article
- A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic.Clinical genetics · 2026Article
- Tuberous sclerosis complex.Nature reviews. Disease primers · 2026Review
- Multicystic Kidney Disease in a Family With Tuberous Sclerosis Complex.Nephrology (Carlton, Vic.) · 2026Article
- Comparative Evaluation of CT and MRI in Detecting Intracranial and Extracranial Manifestations of Tuberous Sclerosis Complex.Neuropsychiatric disease and treatment · 2026Article
- Comprehensive analysis of non-synonymous single-nucleotide polymorphism of human TSC1 and TSC2 genes: An in silico approach.PloS one · 2026Article
- APakistan journal of medical sciences · 2025Article
- Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex.Human mutation · 2025Article
- An interpretable machine learning approach for predicting drug-resistant epilepsy in children with tuberous sclerosis complex.Frontiers in neurology · 2025Article
- Review
- Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.Molecular genetics & genomic medicine · 2024Article
- Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex.Neurogenetics · 2024Observational
- The extent of kidney involvement in paediatric tuberous sclerosis complex.Pediatric nephrology (Berlin, Germany) · 2024Article
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Authors and funding
31 authors at 17 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo perform comprehensive genotyping of TSC1 and TSC2 in a cohort of 94 infants with tuberous sclerosis complex (TSC) and correlate with clinical manifestations.
methodsInfants were enrolled at age <4 months, and subject to intensive clinical monitoring including electroencephalography (EEG), brain magnetic resonance imaging (MRI), and neuropsychological assessment. Targeted massively parallel sequencing (MPS), genome sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used for variant detection in TSC1/TSC2.
resultsPathogenic variants in TSC1 or TSC2 were identified in 93 of 94 (99%) subjects, with 23 in TSC1 and 70 in TSC2. Nine (10%) subjects had mosaicism. Eight of 24 clinical features assessed at age 2 years were significantly less frequent in those with TSC1 versus TSC2 variants including cortical tubers, hypomelanotic macules, facial angiofibroma, renal cysts, drug-resistant epilepsy, developmental delay, subependymal giant cell astrocytoma, and median seizure-free survival. Additionally, quantitative brain MRI analysis showed a marked difference in tuber and subependymal nodule/giant cell astrocytoma volume for TSC1 versus TSC2.
conclusionTSC2 pathogenic variants are associated with a more severe clinical phenotype than mosaic TSC2 or TSC1 variants in TSC infants. Early assessment of gene variant status and mosaicism might have benefit for clinical management in infants and young children with TSC.
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