title: Genetic variants of synaptic vesicle and presynaptic plasma membrane proteins in idiopathic generalized epilepsy.
abstract: BACKGROUND
  The aim of this study was to analyze the role of the genetic variants of two synaptic vesicle proteins (VAMP2 and Synaptotagmin XI) and two presynaptic plasma membrane proteins (Syntaxin 1A and SNAP-25) in patients with idiopathic generalized epilepsy (IGE).
  
  
  METHODS
  Eighty-five patients with IGE and 93 healthy subjects were included in the study. We analyzed the functional polymorphisms of VAMP2, Synaptotagmin XI, Syntaxin 1A and SNAP-25 genes with polymerase chain reaction and restriction fragment length polymorphism methods.
  
  
  RESULTS
  In the patients with IGE, significant differences alleles and genotypes of 26 bp Ins/Del polymorphism of the VAMP2 gene and the 33-bp promoter region of Synaptotagmin XI were observed, however no associaton was found regarding Intron 7 rs1569061 of Syntaxin 1A gene, MnlI rs3746544 and DdeI rs1051312 polymorphisms of SNAP-25 gene compared with healthy subjects. Carriers of the C allele of Synaptotagmin XI had worse measures compared with the T allele of Synaptotagmin XI. In the haplotype analysis, the frequency of the T alleles of rs1569061 and of the C alleles of the 33-bp promoter region of Synaptotagmin XI was found to be significantly higher in patients with IGE as compared with the healthy subjects.
  
  
  CONCLUSIONS
  The genetic variations of VAMP2, Synaptotagmin XI might be indication of the relationship between these genes and IGE.
authors.affiliation: Department of Neurology, Faculty of Medicine .
authors.forename: Mustafa
authors.initials: M
authors.lastname: Yilmaz
authors.forename: Tuba Gokdogan
authors.initials: TG
authors.lastname: Edgunlu
authors.forename: Nigar
authors.initials: N
authors.lastname: Yilmaz
authors.forename: Esin Sakalli
authors.initials: ES
authors.lastname: Cetin
authors.forename: Sevim Karakas
authors.initials: SK
authors.lastname: Celik
authors.forename: Gülser Karadaban
authors.initials: GK
authors.lastname: Emir
authors.forename: Ayşe
authors.initials: A
authors.lastname: Sözen
mesh_terms: D000293:Adolescent; D000328:Adult; D004829:Epilepsy, Generalized / Q000235:genetics* / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D013572:Synaptic Vesicles / Q000235:genetics / Q000378:metabolism; D050825:Synaptosomal-Associated Protein 25 / Q000235:genetics*; D050857:Synaptotagmins / Q000235:genetics*; D050827:Syntaxin 1 / Q000235:genetics*; D050988:Vesicle-Associated Membrane Protein 2 / Q000235:genetics*
chemical_list: C494208:SNAP25 protein, human; D050825:Synaptosomal-Associated Protein 25; D050827:Syntaxin 1; C494807:VAMP2 protein, human; D050988:Vesicle-Associated Membrane Protein 2; D050857:Synaptotagmins