Journal article

Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy

Natasha E Schoeler, Costin Leu, Jon White, Vincent Plagnol, Sian Ellard, Mar Matarin, Gary Yellen, Elizabeth A Thiele, Mark Mackay, Jacinta M McMahon, Ingrid E Scheffer, Josemir W Sander, J Helen Cross, Sanjay M Sisodiya



In the absence of specific metabolic disorders, predictors of response to ketogenic dietary therapies (KDT) are unknown. We aimed to determine whether variants in established candidate genes KCNJ11 and BAD influence response to KDT. We sequenced KCNJ11 and BAD in individuals without previously-known glucose transporter type 1 deficiency syndrome or other metabolic disorders, who received KDT for epilepsy. Hospital records were used to obtain demographic and clinical data. Two response phenotypes were used: ≥ 50% seizure reduction and seizure-freedom at 3-month follow-up. Case/control association tests were conducted with KCNJ11 and BAD variants with minor allele frequency (MAF)>0.01, using P..

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University of Melbourne Researchers


Awarded by Wellcome Trust

Awarded by Epilepsy Research UK

Funding Acknowledgements

This study was partly funded by the Wellcome Trust (084730). NES is supported by a UCL Impact Studentship in conjunction with Epilepsy Society. MM is supported by Epilepsy Research UK (F1206). JWS receives research support from Epilepsy Society, the Dr. Marvin Weil Epilepsy Research Fund, Eisai, GSK, WHO, EU FP7 and the National Institutes of Health (NIH), and has been consulted by and received fees for lectures from GSK, Eisai and UCB Pharma. JHC has received funds to the department for research into the ketogenic diet from Vitaflo. Honoraria for speaking have also been made to the department on her behalf from Nutricia. JHC and IS have written a cookery book aetocooking', funds from the sale of which will be donated to their respective departments. SMS receives research support from Epilepsy Society, The Wellcome Trust, The European Commission, Dravet Syndrome UK, Epilepsy Action, MRC, NIH and The Katy Baggott Foundation and has received research support/fees from lectures from Eisai, GSK and UCB Pharma. The remaining authors have no conflicts of interest.