title: Head tremor related to CACNA1A mutations.
abstract: BACKGROUND
  Familial hemiplegic migraine (FHM) is characterized by the familial occurrence of migraine attacks with fully reversible transient hemiplegia. Mutations in three different genes have been identified; CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). Besides hemiplegia, several other symptoms have been described in FHM 1-3 mutation carriers, including epilepsy and cerebellar symptoms.
  
  
  METHODS
  We describe two patients in whom hemiplegic attacks were not the presenting symptom, but in whom an otherwise unexplained head tremor led us to search for FHM mutations. Both patients carried a mutation in the CACNA1A gene.
  
  
  CONCLUSIONS
  CACNA1A mutations can give significant symptoms other than (hemiplegic) migraine as reason for presentation.
authors.affiliation: Department of Neurology, Atrium Medical Centre, Heerlen, The Netherlands.
authors.forename: Rianne P J
authors.initials: RP
authors.lastname: Geerlings
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Koehler
authors.forename: Danielle Y P
authors.initials: DY
authors.lastname: Haane
authors.forename: Anine H
authors.initials: AH
authors.lastname: Stam
authors.forename: Boukje
authors.initials: B
authors.lastname: de Vries
authors.forename: Elles M J
authors.initials: EM
authors.lastname: Boon
authors.forename: Joost
authors.initials: J
authors.lastname: Haan
mesh_terms: D000328:Adult; D015220:Calcium Channels / Q000235:genetics*; D005260:Female; D006257:Head; D006261:Headache / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D014202:Tremor / Q000235:genetics*; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type