title: Bromodomain-containing protein 2 gene in photosensitive epilepsy.
abstract: OBJECTIVE
  Photosensitive epilepsy (PSE) is a form of reflex epilepsy characterized by seizures triggered by light. Genetic factors play an important role and some studies have indicated a possible role of the bromodomain-containing protein 2 (BRD2) gene. Our aim was to investigate the relationship between PSE and mutations of the BRD2 gene.
  
  
  METHODS
  Fifty-four PSE patients with normal findings on neurological examination and neuro-imaging studies were included. All had a clear photoparoxysmal response in the EEG as reported by 2 experienced EEG interpreters. We investigated the BRD2 gene by denaturing high performance liquid chromatography followed by direct DNA sequencing.
  
  
  RESULTS
  We failed to detect any mutations of the BRD2 gene. However, several single-nucleotide polymorphisms (SNPs) were observed in the gene; three of them were novel SNPs. The comparison of the patients showing these SNP changes with the remaining patients suggested a link between carrier status and prognosis.
  
  
  CONCLUSIONS
  Our study did not confirm the presence of the genetic variants previously found to link the BRD2 gene to the idiopathic form of photosensitive epilepsy. SNP changes of the BRD2 gene may be clinically relevant but these findings need to be verified by larger studies.
authors: Istanbul University, Istanbul Faculty of Medicine, Department of Neurology and Istanbul University Epilepsy Center, Turkey.
authors: Ebru Nur
authors: EN
authors: Yavuz
authors: Ozkan
authors: O
authors: Ozdemir
authors: Suzin
authors: S
authors: Catal
authors: Nerses
authors: N
authors: Bebek
authors: Ugur
authors: U
authors: Ozbek
authors: Betul
authors: B
authors: Baykan
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002851:Chromatography, High Pressure Liquid; D004569:Electroencephalography; D020195:Epilepsy, Reflex / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D014157:Transcription Factors; D055815:Young Adult; D000092468:Bromodomain Containing Proteins
chemical_list: D017346:Protein Serine-Threonine Kinases; D014157:Transcription Factors; C098415:BRD2 protein, human; D000092468:Bromodomain Containing Proteins