ArticleClinical case reports2026
Situs Inversus Totalis and Severe Early-Onset Developmental Epileptic Encephalopathy in a Child With a Homozygous CFAP52 Mutation: A Case Report.
Article in Clinical case reports, 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
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a 2-year-old boy with a homozygous CFAP52 mutation presenting with situs inversus totalis, severe epileptic developmental encephalopathy, and global developmental delay, expanding the phenotypic spectrum of CFAP52-related ciliopathies. Clinical findings included multifocal epileptiform discharges, thin corpus callosum, and a small subdural hematoma. Trio whole-exome sequencing also revealed a homozygous NCAPG2 variant of uncertain significance, however, its clinical significance remains unproven and no causal relationship can be established. This case highlights the diagnostic value of comprehensive genomic testing in complex neuro-visceral disorders and underscores the importance of cautious interpretation of co-inherited variants in atypical ciliopathy presentations. The report follows CARE guidelines.
Indexed as
Identifiers
What Socratic 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 Socratic graph.