Show simple item record

dc.contributor.authorSchoeler, N. E.en
dc.contributor.authorLeu, C.en
dc.contributor.authorWhite, J.en
dc.contributor.authorPlagnol, V.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorMatarin, M.en
dc.contributor.authorYellen, G.en
dc.contributor.authorThiele, E. A.en
dc.contributor.authorMackay, M.en
dc.contributor.authorMcMahon, J. M.en
dc.contributor.authorScheffer, I. E.en
dc.contributor.authorSander, J. W.en
dc.contributor.authorCross, J. H.en
dc.contributor.authorSisodiya, S. M.en
dc.date.accessioned2016-08-10T09:24:20Z
dc.date.available2016-08-10T09:24:20Z
dc.date.issued2015-12
dc.identifier.citationVariants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy. 2015, 118:22-8 Epilepsy Res.en
dc.identifier.issn1872-6844
dc.identifier.pmid26590798
dc.identifier.doi10.1016/j.eplepsyres.2015.10.003
dc.identifier.urihttp://hdl.handle.net/11287/618133
dc.description.abstractIn 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 PLINK. Response to KDT in individuals with variants with MAF<0.01 was evaluated. 303 Individuals had KCNJ11 and 246 individuals had BAD sequencing data and diet response data. Six SNPs in KCNJ11 and two in BAD had MAF>0.01. Eight variants in KCNJ11 and seven in BAD (of which three were previously-unreported) had MAF<0.01. No significant results were obtained from association analyses, with either KDT response phenotype. P-values were similar when accounting for ethnicity using a stratified Cochran-Mantel-Haenszel test. There did not seem to be a consistent effect of rare variants on response to KDT, although the cohort size was too small to assess significance. Common variants in KCNJ11 and BAD do not predict response to KDT for epilepsy. We can exclude, with 80% power, association from variants with a MAF of >0.05 and effect size >3. A larger sample size is needed to detect associations from rare variants or those with smaller effect sizes.en
dc.language.isoenen
dc.publisherElsevieren
dc.relation.urlhttp://linkinghub.elsevier.com/retrieve/pii/S0920-1211(15)30058-9en
dc.rightsArchived with thanks to Epilepsy researchen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Neurologyen
dc.titleVariants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.en
dc.typeJournal Articleen
dc.typeResearch Support, Non-U.S. Gov'ten
dc.identifier.journalEpilepsy researchen
dc.description.noteThis article is freely available via Open Access, click on the 'Additional Link' above to access the full text.en
dc.type.versionPublisheden


Files in this item

FilesSizeFormatView

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record