Ketogenic Diet as an Epigenetic Therapy in <i>SETD1B</i> ‐Related Epilepsy

Tsang, E; Gloss, BS; Hayes, JP; Holland, AJA; Menezes, MP; Branson, JA; Mohammad, SS; Yan, JJ; Patel, S; Han, VX; Dale, RC

Ketogenic Diet as an Epigenetic Therapy in <i>SETD1B</i> ‐Related Epilepsy

Tsang, E Gloss, BS Hayes, JP Holland, AJA Menezes, MP Branson, JA Mohammad, SS Yan, JJ Patel, S Han, VX Dale, RC

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Publisher:: Wiley
Publication Type:: Journal Article
Citation:: Annals of Clinical and Translational Neurology

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Field	Value	Language
dc.contributor.author	Tsang, E
dc.contributor.author	Gloss, BS
dc.contributor.author	Hayes, JP
dc.contributor.author	Holland, AJA
dc.contributor.author	Menezes, MP
dc.contributor.author	Branson, JA
dc.contributor.author	Mohammad, SS
dc.contributor.author	Yan, JJ
dc.contributor.author	Patel, S
dc.contributor.author	Han, VX
dc.contributor.author	Dale, RC
dc.date.accessioned	2026-02-23T02:13:25Z
dc.date.available	2026-02-23T02:13:25Z
dc.identifier.citation	Annals of Clinical and Translational Neurology
dc.identifier.issn	2328-9503
dc.identifier.issn	2328-9503
dc.identifier.uri	http://hdl.handle.net/10453/193689
dc.description.abstract	<jats:title>ABSTRACT</jats:title> <jats:p> Histone lysine methyltransferases such as <jats:italic>SETD1B</jats:italic> regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with <jats:italic>SETD1B</jats:italic> ‐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. </jats:p>
dc.language	en
dc.publisher	Wiley
dc.relation.ispartof	Annals of Clinical and Translational Neurology
dc.relation.isbasedon	10.1002/acn3.70345
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	1103 Clinical Sciences, 1109 Neurosciences
dc.subject.classification	3209 Neurosciences
dc.subject.classification	5203 Clinical and health psychology
dc.title	Ketogenic Diet as an Epigenetic Therapy in <i>SETD1B</i> ‐Related Epilepsy
dc.type	Journal Article
utslib.for	1103 Clinical Sciences
utslib.for	1109 Neurosciences
pubs.organisational-group	University of Technology Sydney
pubs.organisational-group	University of Technology Sydney/Faculty of Science
pubs.organisational-group	University of Technology Sydney/Faculty of Science/School of Mathematical and Physical Sciences
utslib.copyright.status	open_access	*
dc.rights.license	This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0). To view a copy of this license, visit https://creativecommons.org/licenses/by/4.0/
dc.date.updated	2026-02-23T02:13:23Z
pubs.publication-status	Published online

Abstract:

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.

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http://hdl.handle.net/10453/193689