title: CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.
abstract: Of the 18 missense mutations in the CACNA1A gene, which are associated with familial hemiplegic migraine type 1 (FHM1), only mutations S218L, R583Q and T666M were identified in more than two independent families. Including the four novel families presented here, of which two represent de novo cases, the R1347Q mutation has now been identified in six families. A genotype-phenotype comparison of R1347Q mutation carriers revealed a wide clinical spectrum ranging from (trauma triggered) hemiplegic migraine with and without ataxia, loss of consciousness and epilepsy. R1347Q is the third most frequent mutation in hemiplegic migraine patients and should therefore be screened with priority for confirmation of clinical diagnosis. This study clearly demonstrates that the availability of multiple families better reflects the full clinical spectrum associated with FHM1 mutations.
authors.affiliation: Department of Neurology and Clinical Genetic, Erasmus Medical Centre, Leiden, The Netherlands.
authors.forename: A H
authors.initials: AH
authors.lastname: Stam
authors.forename: K R J
authors.initials: KR
authors.lastname: Vanmolkot
authors.forename: H P H
authors.initials: HP
authors.lastname: Kremer
authors.forename: J
authors.initials: J
authors.lastname: Gärtner
authors.forename: J
authors.initials: J
authors.lastname: Brown
authors.forename: E
authors.initials: E
authors.lastname: Leshinsky-Silver
authors.forename: R
authors.initials: R
authors.lastname: Gilad
authors.forename: E E
authors.initials: EE
authors.lastname: Kors
authors.forename: W S
authors.initials: WS
authors.lastname: Frankhuizen
authors.forename: H B
authors.initials: HB
authors.lastname: Ginjaar
authors.forename: J
authors.initials: J
authors.lastname: Haan
authors.forename: R R
authors.initials: RR
authors.lastname: Frants
authors.forename: M D
authors.initials: MD
authors.lastname: Ferrari
authors.forename: A M J M
authors.initials: AM
authors.lastname: van den Maagdenberg
authors.forename: G M
authors.initials: GM
authors.lastname: Terwindt
mesh_terms: D000293:Adolescent; D000368:Aged; D015220:Calcium Channels / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020325:Migraine with Aura / Q000235:genetics*; D008954:Models, Biological; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D020864:Calcium Channels, N-Type
chemical_list: D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type