Journal article

Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor

Natasha E Schoeler, Judith Helen Cross, Suzanne Drury, Nicholas Lench, Jacinta M McMahon, Mark T MacKay, Ingrid E Scheffer, Josemir W Sander, Sanjay M Sisodiya



AIM: We aimed to determine whether response to ketogenic dietary therapies (KDT) was due to undiagnosed glucose transporter type 1 deficiency syndrome (GLUT1-DS). METHOD: Targeted resequencing of the SLC2A1 gene was completed in individuals without previously known GLUT1-DS who received KDT for their epilepsy. Hospital records were used to obtain demographic and clinical data. Response to KDT at various follow-up points was defined as seizure reduction of at least 50%. Seizure freedom achieved at any follow-up point was also documented. Fisher's exact and gene-burden association tests were conducted using the PLINK/SEQ open-source genetics library. RESULTS: Of the 246 participants, one was s..

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University of Melbourne Researchers


Funding Acknowledgements

This work was undertaken at University College London Hospitals NHS Foundation Trust and University College London, and a proportion of funding was received from the UK Department of Health's NIHR Biomedical Research Centres funding scheme. NES was supported by a UCL Impact Studentship in conjunction with The Katy Baggott Foundation and Epilepsy Society. JWS received research support from Epilepsy Society, the Dr Marvin Weil Epilepsy Research Fund, Eisai, GlaxoSmithKline, World Health Organization, EU FP7, and the US National Institutes of Health (NIH), and was consulted by and received fees for lectures from GSK, Eisai, and UCB Pharma. JHC received funds to the department for research into the ketogenic diet from Vitaflo. Honoraria for speaking were also made to the department on her behalf from Nuntranslated regionicia. JHC and IES have written a cookery book, 'Ketocooking', funds from the sale of which are donated to their respective departments. SMS received research support from the Epilepsy Society, The Wellcome Trust, The European Commission, Dravet Syndrome UK, Epilepsy Action, MRC, NIH, and The Katy Baggott Foundation, and received research support/fees from lectures from Eisai, GlaxoSmithKline, and UCB Pharma. The remaining authors have no conflicts of interest in relation to this work. We thank the patients and their families for participating in the research. We are grateful to the following clinicians and staff who assisted with recruitment and provided phenotypic details: C Eltze, M Sewell, C Fitzachary, and G Fitzsimmons (Great Ormond Street Hospital, London); R Williams, M-A Leung, T Randall, L Alford, A Tomalin, and E Hughes (Evelina London Children's Hospital, London); H Chan, C Ellerton, C Maritz, and R Lachmann (National Hospital for Neurology and Neurosurgery, London); B Concannon, S Philip, and V Hopkins (Birmingham Children's Hospital, Birmingham); P Fallon, O Stone, and N Dos Santos (St George's Hospital, London); V Aldridge, E Neal, T Stein, and A Desurkar (Matthew's Friends Clinics for Ketogenic Dietary Therapies, Surrey); H Champion, A Parker, and A Maw (Addenbrooke's Hospital, Cambridge); R Kneen and B Evans (Alder Hey Children's Hospital, Liverpool); M Dunlop and H Edwards (Bristol Royal Hospital for Sick Children, Bristol); J Bicknell-Royle (The Royal Children's Hospital, Melbourne, Australia); C Leu and A Tostevin (UCL Institute of Neurology, London). We also thank J White (UCL Genetics Institute) for discussions.