کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3052393 1579927 2011 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS)
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی عصب شناسی
پیش نمایش صفحه اول مقاله
Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS)
چکیده انگلیسی

SummaryPurposePartial Epilepsy with Pericentral Spikes (PEPS) is a novel Mendelian idiopathic epilepsy with evidence of linkage to Chromosome 4p15. Our aim was to identify the causative mutation in this epilepsy syndrome.MethodsWe re-annotated all 42 genes in the linked chromosomal region and sequenced all genes within the linked interval. All exons, intron⿿exon boundaries and untranslated regions were sequenced in the original pedigree, and novel changes segregating correctly were subjected to bioinformatic analysis. Quantitative polymerase chain reaction was performed to examine for potential copy number variation (CNV).Results29 previously undescribed variants correctly segregating with the linked haplotype were identified. Bioinformatic analysis demonstrated that six variants were non-synonymous coding sequence polymorphisms, one of which, in Q8IYL2 (Gly400Ala), was found in neither Caucasian (n = 243) and ancestry-matched Brazilian (n = 180) control samples, nor subjects from the 1000 Genome Project. No gene duplications or deletions were identified in the linked region.DiscussionWe postulate that Q8IYL2 is a causative gene for PEPS, after exhaustive resequencing and bioinformatic analysis. The function of this gene is unknown, but it is expressed in brain tissue.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Epilepsy Research - Volume 96, Issues 1–2, September 2011, Pages 109–115
نویسندگان
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