Bromodomain-Containing Protein 2 gene in photosensitive epilepsy

摘要

Purpose: 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. Conclusion: 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.