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
DOI: 10.1111/epi.14516
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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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