Evidence map›Paper›PMID 41714828›Full record

ArticleAnnals of clinical and translational neurology2026

Ketogenic Diet as an Epigenetic Therapy in SETD1B-Related Epilepsy.

Erica Tsang, Brian S Gloss, Jessica P Hayes, Andrew J A Holland, Manoj P Menezes, Joceline A Branson, Shekeeb S Mohammad, Jingya J Yan, Shrujna Patel, Velda X Han and 1 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of clinical and translational neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Ketogenic Diet as an Epigenetic Therapy in SETD1B-Related Epilepsy.Annals of clinical and translational neurology · 2026
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Erica TsangKids Neuroscience Centre, the Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
Brian S GlossWestmead Research Hub, Westmead Institute for Medical Research, Westmead, New South Wales, Australia.
Jessica P HayesKids Neuroscience Centre, the Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
Andrew J A HollandDouglas Cohen Department of Paediatric Surgery, the Children's Hospital at Westmead Clinical School, the Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
Manoj P MenezesKids Neuroscience Centre, the Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
Joceline A BransonGeneral Paediatrics Department, Canterbury Hospital, Sydney Local Health District, Sydney, New South Wales, Australia.
Shekeeb S MohammadKids Neuroscience Centre, the Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
Jingya J YanSchool of Mathematical and Physical Sciences, Faculty of Science, University of Technology, Sydney, New South Wales, Australia.ORCID 0000-0002-0970-1570
Shrujna PatelKids Neuroscience Centre, the Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
Velda X HanKids Neuroscience Centre, the Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
Russell C DaleKids Neuroscience Centre, the Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.

Funding

Children's Hospital FoundationChildren's Medical Research InstituteNational Health and Medical Research Council 1193648
6 · The paper itself

Abstract

Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4-year-old boy with SETD1B-related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified Atkins ketogenic diet. Single-cell RNA sequencing of 25,159 peripheral mononuclear cells across 3 samples: baseline, 3 months on-diet and age-matched control, revealed widespread dysregulation of the patient's chromatin, ribosomal, immune and mitochondrial pathways at baseline, which were reversed with ketogenic therapy. These findings suggest that the ketogenic diet can improve gene regulation in chromatin-mediated brain disorders.

Indexed as

Diet, KetogenicEpigenesis, GeneticEpilepsyHistone-Lysine N-MethyltransferaseChild, PreschoolHumansMaleHistone-Lysine N-Methyltransferasebutyratechromatinneurologyprecision nutritionsingle cell rna sequencing

Identifiers

PMID41714828
PMCPMC13251447

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.