title: Migraine: gene mutations and functional consequences.
abstract: OBJECTIVE
  Genetic and functional studies of mutations in familial hemiplegic migraine reveal a major role for disturbed ion transport. Gene identification in common, multifactorial migraine remains challenging.
  
  
  RESULTS
  Several new mutations have been identified in FHM1, FHM2 and FHM3 genes. Functional consequences of familial hemiplegic migraine mutations point to an important role for cortical spreading depression in migraine pathophysiology. New genetic approaches have been tested in common migraine - novel chromosomal loci - but no gene variants have been identified.
  
  
  CONCLUSIONS
  Identification and analysis of gene mutations in familial hemiplegic migraine revealed a major role for disturbed ion transport in this disorder. Cellular and transgenic mouse models of familial hemiplegic migraine genes suggest that increased potassium and glutamate play a role in the pathophysiology of the disorder. Despite progress, no genes have been discovered for common migraine.
authors.affiliation: Department of Human Genetics, Leiden, The Netherlands.
authors.forename: Arn M J M
authors.initials: AM
authors.lastname: van den Maagdenberg
authors.forename: Joost
authors.initials: J
authors.lastname: Haan
authors.forename: Gisela M
authors.initials: GM
authors.lastname: Terwindt
authors.forename: Michel D
authors.initials: MD
authors.lastname: Ferrari
mesh_terms: D000818:Animals; D001923:Brain Chemistry / Q000235:genetics*; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007473:Ion Channels / Q000235:genetics; D008564:Membrane Potentials / Q000235:genetics; D051379:Mice; D008881:Migraine Disorders / Q000235:genetics* / Q000503:physiopathology*; D020325:Migraine with Aura / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D021122:Protein Subunits / Q000235:genetics
chemical_list: D007473:Ion Channels; D021122:Protein Subunits