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

  • Schoeler N
  • Cross J
  • Drury S
 et al. 
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AimWe aimed to determine whether response to ketogenic dietary therapies (KDT) was due to undiagnosed glucose transporter type 1 deficiency syndrome (GLUT1-DS). MethodTargeted 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. ResultsOf the 246 participants, one was shown to have a novel variant in SLC2A1 that was predicted to be deleterious. This individual was seizure-free on KDT. Rates of seizure freedom in cases without GLUT1-DS were below 8% at each follow-up point. Two cases without SLC2A1 mutations were seizure-free at every follow-up point recorded. No significant results were obtained from Fisher's exact or gene-burden association tests. InterpretationA favourable response to KDT is not solely explained by mutations in SLC2A1. Other genetic factors should be sought to identify those who are most likely to benefit from dietary treatment for epilepsy, particularly those who may achieve seizure freedom. What this paper adds Of 246 participants, one (0.4%) had a putatively deleterious variant in SLC2A1. Fewer than 8% of participants without glucose transporter type 1 deficiency syndrome (GLUT1-DS) were seizure-free at each follow-up point. Single-variant and gene-burden association tests gave no significant results. Ketogenic dietary therapies (KDT) response is not fully explained by SLC2A1 mutation/common variation. This article is commented on by Klepper on pages 896-897 of this issue.

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  • Natasha E. Schoeler

  • Judith Helen Cross

  • Suzanne Drury

  • Nicholas Lench

  • Jacinta M. Mcmahon

  • Mark T. Mackay

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