title: KCNK18 (TRESK) genetic variants in Italian patients with migraine.
abstract: OBJECTIVE
  To evaluate the prevalence of KCNK18 gene mutations in a dataset of Italian migraineurs, with and without aura, and in healthy controls, and to investigate in silico the functional effects of the mutations.
  
  
  BACKGROUND
  A role for the KCNK18 gene encoding for TRESK, a member of the family of potassium channel, has been recently suggested in migraine with aura.
  
  
  METHODS
  We sequenced the KCNK18 gene in 425 migraineurs (255 with aura and 170 without aura) and 247 healthy controls.
  
  
  RESULTS
  Five genetic variants (R10G, C110R, Y163Y, S231P, and F372L) were found in 13 (5.1%) out of 255 migraine with aura patients, and 6 variants (R10G, D46D, C110R, Y163Y, S178T, and S231P) were identified in 12 (7.1%) out of 170 migraine without aura patients. In 2.8% of controls, the R10G and L20V substitutions were found. In silico analysis suggested that C110R, S178T, S231P, and F372L mutations may have potential damaging effect on channel function, whereas the remaining mutations may have low damaging effect.
  
  
  CONCLUSIONS
  Our study shows the presence of several KCNK18 gene mutations in both migraine with aura and migraine without aura. However, the precise role of this gene in migraine predisposition deserves further studies.
authors.affiliation: Neurology I - Headache Center, Department of Neuroscience "Rita Levi Montalcini, University of Torino, Torino, Italy.
authors.forename: Innocenzo
authors.initials: I
authors.lastname: Rainero
authors.forename: Elisa
authors.initials: E
authors.lastname: Rubino
authors.forename: Salvatore
authors.initials: S
authors.lastname: Gallone
authors.forename: Paola
authors.initials: P
authors.lastname: Zavarise
authors.forename: Daniela
authors.initials: D
authors.lastname: Carli
authors.forename: Silvia
authors.initials: S
authors.lastname: Boschi
authors.forename: Pierpaola
authors.initials: P
authors.lastname: Fenoglio
authors.forename: Lidia
authors.initials: L
authors.lastname: Savi
authors.forename: Salvatore
authors.initials: S
authors.lastname: Gentile
authors.forename: Paolo
authors.initials: P
authors.lastname: Benna
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pinessi
authors.forename: Giorgio
authors.initials: G
authors.lastname: Dalla Volta
mesh_terms: D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D008881:Migraine Disorders / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D015221:Potassium Channels / Q000235:genetics*
chemical_list: C476574:KCNK18 protein, human; D015221:Potassium Channels
keywords: KCNK18 gene; TRESK; aura; migraine; potassium channel