ArticleFrontiers in pediatrics2026
Clinical characteristics and molecular genetic analysis of 73 cases of tuberous sclerosis complex caused by
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: This study analyzed the clinical and genetic characteristics of 73 pediatric patients with tuberous sclerosis complex (TSC). Through an examination of genotype-phenotype correlations, the research aimed to identify patterns in mutation characteristics to facilitate the optimization of diagnostic, therapeutic, and prognostic strategies. Methods: This retrospective study analyzed pediatric patients with TSC at Nanjing Medical University Children's Hospital between February 2018 and June 2025. Clinical data, including demographics and initial manifestations, were reviewed and peripheral blood samples were collected for whole-exome sequencing. Statistical analysis of categorical variables was performed using the chi-square test. Results: Among the 73 pediatric TSC patients, 62 (85%) were diagnosed with epilepsy, with seizures being the initial manifestation in 56 (90%) of these cases. The observed seizure types included epileptic spasms ( Conclusion: The clinical phenotype of TSC is highly heterogeneous, with complex genotype-phenotype associations. The identification of 14 novel variants expands the known mutational spectrum of TSC, and the detailed genotype-phenotype analysis provides valuable insights for early diagnosis, genetic counseling, and personalized therapeutic strategies in pediatric populations. Early
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.