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Ketogenic Diet as an Epigenetic Therapy in SETD1B-Related Epilepsy

GSE319821 Homo sapiens Expression profiling by high throughput sequencing 3 samples Submitted 2026/05/11 Platform GPL34281
Summary
[RD1.1]Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a [VH2.1]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 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.
Published in
Ketogenic Diet as an Epigenetic Therapy in SETD1B-Related Epilepsy
Tsang E, Gloss BS, Hayes JP et al. · Annals of clinical and translational neurology 2026 · PMID 41714828 · doi:10.1002/acn3.70345
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Also filed as BioProject PRJNA1425141 and SRA study SRP677906. Searching any of these in the dataset finder brings you back here.

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