ArticleEpilepsia2018
Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy.
Article in Epilepsia, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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
11 citing papers in PubMed, 17 citations in OpenAlex.
- Lennox-Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop.Epilepsia · 2026Review
- Clinical Efficacy and Safety of the Ketogenic Diet in Patients with Genetic Confirmation of Drug-Resistant Epilepsy.Nutrients · 2025Review
- Integrative analysis of epilepsy-associated genes reveals expression-phenotype correlations.Scientific reports · 2024Article
- Histone crotonylation in neurobiology: to be or not to be?Chinese medical journal · 2022Article
- Analysis of Factors That May Affect the Effectiveness of Ketogenic Diet Treatment in Pediatric and Adolescent Patients.Journal of clinical medicine · 2022Article
- The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy.Metabolites · 2020Article
- Genetic variants for personalised management of very low carbohydrate ketogenic diets.BMJ nutrition, prevention & health · 2020Review
- Diet in the Treatment of Epilepsy: What We Know So Far.Nutrients · 2020Review
- Efficacy and Safety of a Ketogenic Diet in Children and Adolescents with Refractory Epilepsy-A Review.Nutrients · 2020Review
- Loss of CDYL Results in Suppression of CTNNB1 and Decreased Endometrial Receptivity.Frontiers in cell and developmental biology · 2020Article
- Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy.Epilepsia · 2018Article
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 4 countries.
Funding
Abstract
objectiveWith the exception of specific metabolic disorders, predictors of response to ketogenic dietary therapies (KDTs) are unknown. We aimed to determine whether common variation across the genome influences the response to KDT for epilepsy.
methodsWe genotyped individuals who were negative for glucose transporter type 1 deficiency syndrome or other metabolic disorders, who received KDT for epilepsy. Genotyping was performed with the Infinium HumanOmniExpressExome Beadchip. Hospital records were used to obtain demographic and clinical data. KDT response (≥50% seizure reduction) at 3-month follow-up was used to dissect out nonresponders and responders. We then performed a genome-wide association study (GWAS) in nonresponders vs responders, using a linear mixed model and correcting for population stratification. Variants with minor allele frequency <0.05 and those that did not pass quality control filtering were excluded.
resultsAfter quality control filtering, the GWAS of 112 nonresponders vs 123 responders revealed an association locus at 6p25.1, 61 kb upstream of CDYL (rs12204701, P = 3.83 × 10 SIGNIFICANCE: CDYL deficiency has been shown to disrupt neuronal migration and to influence susceptibility to epilepsy in mice. Further exploration with a larger replication cohort is warranted to clarify whether CDYL is the causal gene underlying the association signal.
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