title: GABA(B) receptor 1 polymorphism (G1465A) is associated with temporal lobe epilepsy.
abstract: BACKGROUND
  Dysfunction of gamma-aminobutyric acid (GABA) (B) receptors has been implicated in the pathogenesis of temporal lobe epilepsy (TLE).
  
  
  OBJECTIVE
  To evaluate the genetic contribution of cloned human GABA(B) receptors to TLE.
  
  
  METHODS
  The authors genotyped 141 patients (78 women and 63 men; mean age = 49.1 +/- 18.0 years) with nonlesional TLE and 372 age- and sex-matched normal individuals for the known polymorphism G1465A in the human GABA(B) receptor 1 [GABA(B[1])] gene.
  
  
  RESULTS
  There was a highly significant overrepresentation of the G1465A heterozygote in patients with TLE compared with controls. The A/G genotype was found in 17% of the 141 patients with TLE and in only 0.5% of the 372 controls (p < 0.0001). The authors also found that patients carrying the A allele had a significantly higher risk (p = 0.003, OR = 6.47, 95% CI = 2.02 to 20.76) of developing drug-resistant TLE. Furthermore, the age at onset of seizures tended to be lower in patients with A/G genotype, but the difference was not significant.
  
  
  CONCLUSIONS
  The results of this study indicate that the GABA(B[1]) polymorphism (G1465A) confers a highly increased susceptibility to TLE. Moreover, it seems to influence the severity of this common epileptic disorder.
authors.affiliation: Institute of Neurology, School of Medicine, Catanzaro, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Gambardella
authors.forename: I
authors.initials: I
authors.lastname: Manna
authors.forename: A
authors.initials: A
authors.lastname: Labate
authors.forename: R
authors.initials: R
authors.lastname: Chifari
authors.forename: A
authors.initials: A
authors.lastname: La Russa
authors.forename: P
authors.initials: P
authors.lastname: Serra
authors.forename: R
authors.initials: R
authors.lastname: Cittadella
authors.forename: S
authors.initials: S
authors.lastname: Bonavita
authors.forename: V
authors.initials: V
authors.lastname: Andreoli
authors.forename: E
authors.initials: E
authors.lastname: LePiane
authors.forename: F
authors.initials: F
authors.lastname: Sasanelli
authors.forename: A
authors.initials: A
authors.lastname: Di Costanzo
authors.forename: M
authors.initials: M
authors.lastname: Zappia
authors.forename: G
authors.initials: G
authors.lastname: Tedeschi
authors.forename: U
authors.initials: U
authors.lastname: Aguglia
authors.forename: A
authors.initials: A
authors.lastname: Quattrone
mesh_terms: D017668:Age of Onset; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D018080:Receptors, GABA-B / Q000235:genetics*; D018570:Risk Assessment
chemical_list: D018080:Receptors, GABA-B