title: Epilepsy as part of the phenotype associated with ATP1A2 mutations.
abstract: OBJECTIVE
  Mutations in the ATP1A2 gene have been described in families with familial hemiplegic migraine (FHM). FHM is a variant of migraine with aura characterized by the occurrence of hemiplegia during the aura. Within several FHM families, some patients also had epileptic seizures. In this study we tested the hypothesis that mutations in ATP1A2 may be common in patients presenting with epilepsy and migraine.
  
  
  METHODS
  We selected 20 families with epilepsy and migraine and performed mutation analysis of ATP1A2 in the probands by direct sequencing of all exons and splice-site junctions.
  
  
  RESULTS
  Novel ATP1A2 mutations were found in two of the 20 families (10%). The p.Gly900Arg mutation was present in a family with epilepsy and FHM, and the p.Cys702Tyr mutation occurred in a family with occipitotemporal epilepsy and migraine with and without visual aura. In the two families together, six mutation carriers had the combination of epilepsy and migraine, two had only epilepsy, and six had only migraine.
  
  
  CONCLUSIONS
  This study shows that a history of migraine and a family history of both epilepsy and migraine should be obtained in all patients presenting with epilepsy in the epilepsy clinic. It may be worthwhile to screen patients with a combination of epilepsy and migraine and a positive family history of either migraine or epilepsy for mutations in the ATP1A2 gene.
authors.affiliation: Neurogenetics Group, Department of Molecular Genetics, VIB; Antwerpen, Belgium.
authors.forename: Liesbet
authors.initials: L
authors.lastname: Deprez
authors.forename: Sarah
authors.initials: S
authors.lastname: Weckhuysen
authors.forename: Katelijne
authors.initials: K
authors.lastname: Peeters
authors.forename: Tine
authors.initials: T
authors.lastname: Deconinck
authors.forename: Kristl G
authors.initials: KG
authors.lastname: Claeys
authors.forename: Lieve R F
authors.initials: LR
authors.lastname: Claes
authors.forename: Arvid
authors.initials: A
authors.lastname: Suls
authors.forename: Tine
authors.initials: T
authors.lastname: Van Dyck
authors.forename: André
authors.initials: A
authors.lastname: Palmini
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.forename: Wim
authors.initials: W
authors.lastname: Van Paesschen
authors.forename: Peter
authors.initials: P
authors.lastname: De Jonghe
mesh_terms: D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D001530:Belgium / Q000453:epidemiology; D015897:Comorbidity; D004252:DNA Mutational Analysis; D004827:Epilepsy / Q000453:epidemiology / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D022821:RNA Splice Sites / Q000235:genetics; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D022821:RNA Splice Sites; C498531:ATP1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase