title: Q8IYL2 is a candidate gene for the familial epilepsy syndrome of Partial Epilepsy with Pericentral Spikes (PEPS).
abstract: OBJECTIVE
  Partial 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.
  
  
  METHODS
  We 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).
  
  
  RESULTS
  29 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.
  
  
  CONCLUSIONS
  We 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.
authors.affiliation: Division of Neuroscience, Imperial College London, UK; Wellcome Trust Sanger Institute, Cambridge, UK. guylesch@gmail.com
authors.forename: Guy D
authors.initials: GD
authors.lastname: Leschziner
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Coffey
authors.forename: Toby
authors.initials: T
authors.lastname: Andrew
authors.forename: Sheila P
authors.initials: SP
authors.lastname: Gregorio
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Dias-Neto
authors.forename: Maria
authors.initials: M
authors.lastname: Calafato
authors.forename: David R
authors.initials: DR
authors.lastname: Bentley
authors.forename: Lucy
authors.initials: L
authors.lastname: Kinton
authors.forename: Josemir W
authors.initials: JW
authors.lastname: Sander
authors.forename: Michael R
authors.initials: MR
authors.lastname: Johnson
mesh_terms: D000409:Alanine / Q000235:genetics; D001938:Brazil; D019295:Computational Biology / Q000379:methods; D056915:DNA Copy Number Variations; D004828:Epilepsies, Partial / Q000235:genetics*; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D005998:Glycine / Q000235:genetics; D006801:Humans; D008297:Male; D008780:Methyltransferases / Q000235:genetics*; D010375:Pedigree
chemical_list: D008780:Methyltransferases; D000409:Alanine; D005998:Glycine