Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor. (23rd April 2015)

• Record Type: Journal Article
• Authors: Schoeler, Natasha E; Cross, Judith Helen; Drury, Suzanne; Lench, Nicholas; McMahon, Jacinta M; MacKay, Mark T; Scheffer, Ingrid E; Sander, Josemir W; Sisodiya, Sanjay M
• Is Part Of: Developmental medicine & child neurology. Volume 57:Number 10(2015:Oct.)
• Page Start: 969
• Page End: 976
• Publication Date: 2015-04-23
• Subjects: Child development -- Periodicals; Pediatric neurology -- Periodicals; 616.8
• DOI: 10.1111/dmcn.12781
• Languages: English
• ISSNs: 0012-1622

Abstract

<abstract abstract-type="main" id="dmcn12781-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="dmcn12781-sec-0001" sec-type="section"> <title>Aim</title> <p>We aimed to determine whether response to ketogenic dietary therapies (KDT) was due to undiagnosed glucose transporter type 1 deficiency syndrome (GLUT1‐DS).</p> </sec> <sec id="dmcn12781-sec-0002" sec-type="section"> <title>Method</title> <p>Targeted resequencing of the <italic>SLC2A1</italic> 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.</p> </sec> <sec id="dmcn12781-sec-0003" sec-type="section"> <title>Results</title> <p>Of the 246 participants, one was shown to have a novel variant in <italic>SLC2A1</italic> 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 <italic>SLC2A1</italic> mutations were seizure‐free at every follow‐up point recorded. No significant results were obtained from Fisher's exact or gene‐burden association tests.</p> </sec> <sec id="dmcn12781-sec-0004" sec-type="section"> <title>Interpretation</title> <p>A favourable response to KDT is not solely explained by mutations in <italic>SLC2A1</italic>. 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.</p> </sec> </abstract>