Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes

Cephalalgia. 2008 Oct;28(10):1039-47. doi: 10.1111/j.1468-2982.2008.01645.x. Epub 2008 Jul 17.

Abstract

Familial hemiplegic migraine (FHM) is a rare type of migraine with aura. Mutations in three genes have been described in FHM patients: CACNA1A (FHM1), ATP1A2 (FHM2) and SCN1A (FHM3). We screened 27 Spanish patients with hemiplegic migraine (HM), basilar-type migraine or childhood periodic syndromes (CPS) for mutations in these three genes. Two novel CACNA1A variants, p.Val581Met and p.Tyr1245Cys, and a previously annotated change, p.Cys1534Ser, were identified in individuals with HM, although they have not yet been proven to be pathogenic. Interestingly, p.Tyr1245Cys was detected in a patient displaying a changing, age-specific phenotype that began as benign paroxysmal torticollis of infancy, evolving into benign paroxysmal vertigo of childhood and later becoming HM. This is the first instance of a specific non-synonymous base change being described in a subject affected with CPS. The fact that the molecular screen identified non-synonymous changes in < 15% of our HM patients further stresses the genetic heterogeneity underlying the presumably monogenic forms of migraine.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Calcium Channels / genetics*
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Middle Aged
  • Migraine with Aura / genetics*
  • Molecular Sequence Data
  • Mutation, Missense*
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins / genetics
  • Pedigree
  • Periodicity
  • Sodium Channels / genetics
  • Sodium-Potassium-Exchanging ATPase / genetics
  • Spain
  • Torticollis / genetics
  • Vertigo / genetics

Substances

  • CACNA1A protein, human
  • Calcium Channels
  • NAV1.1 Voltage-Gated Sodium Channel
  • Nerve Tissue Proteins
  • SCN1A protein, human
  • Sodium Channels
  • ATP1A2 protein, human
  • Sodium-Potassium-Exchanging ATPase