Journal article

Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy

NE Schoeler, C Leu, S Balestrini, JM Mudge, CA Steward, A Frankish, MA Leung, M Mackay, I Scheffer, R Williams, JW Sander, JH Cross, SM Sisodiya

Epilepsia | WILEY | Published : 2018

Open access

Abstract

Objective: With 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. Methods: We 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 a..

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University of Melbourne Researchers

Grants

Awarded by UCB Pharma


Funding Acknowledgements

Epilepsy Society; National Human Genome Research Institute, Grant/Award Number: U41HG007234, 2U41HG007234; Muir Maxwell Trust; Wellcome Trust, Grant/Award Number: 084730; NIHR Biomedical Research Centres funding scheme; European Molecular Biology Laboratory; National Health and Medical Research Council of Australia; NIHR Biomedical Research Centres funding; the Epilepsy Society