ArticleEpilepsia2026
Insights into ANKRD11-related epilepsy from 163 people.
Article in Epilepsia, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Insights into ANKRD11-related epilepsy from 163 people.Epilepsia · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
objectiveAnkyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy-related phenotypes and genotype-phenotype correlations in ANKRD11 variant carriers remains limited. We aimed to integrate a single-center cohort with previously reported cases to delineate the epilepsy phenotype spectrum, evaluate genotype-phenotype associations, and provide clinical information for ANKRD11-related epilepsy.
methodsWhole exome sequencing was performed in nine unrelated individuals identified at our center. In addition, a systematic search of PubMed (keywords: "ANKRD11" AND "epilepsy") was performed up to October 2025, and eligible cases were aggregated for pooled analyses of clinical features.
resultsWe identified nine individuals with heterozygous ANKRD11 variants at our center; four had epilepsy, and three variants were novel. In silico analyses suggested stronger predicted deleterious effects for missense variants within repression domain (RD; including RD1 and RD2)-related regions, and localization to RD2 may be associated with potential genotype-phenotype correlations. In a pooled cohort of 163 individuals with ANKRD11 variants and epilepsy, seizure onset occurred at a median age of 4.0 years (interquartile range = 1.5-8.0). Focal and generalized epilepsies were similarly represented, and absence seizures were reported in 22.8%. Brain magnetic resonance imaging (MRI) abnormalities were observed in 45.9% of individuals with available data; 63.2% of patients in the overall cohort achieved seizure freedom, with 36.8% exhibiting drug-resistant epilepsy. Frameshift variants predominated (60.1%), and variants showed domain-specific enrichment, with missense variants clustering in RD2 and truncating variants enriched outside RD2. Individuals with missense variants tended to have later onset, normal MRI, and higher seizure control rates. SIGNIFICANCE: This integrated analysis expands the mutational spectrum of ANKRD11 and provides a consolidated genotype-phenotype landscape of ANKRD11-related epilepsy. Variant class and domain-specific clustering patterns, together with differences in clinical profiles and outcomes, support domain-informed variant interpretation and may improve clinical counseling and management for patients.
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.