A case of familial hemiplegic migraine associated with a novel ATP1A2 gene mutation

Pediatr Neurol. 2012 Aug;47(2):133-6. doi: 10.1016/j.pediatrneurol.2012.04.012.

Abstract

Hemiplegic migraine constitutes an unusual form, characterized by periodic attacks of migraine with a motor component (hemiplegia). Familial forms are dominantly inherited, and are attributable to mutations in genes encoding proteins involved in ion transportation, including ATP1A2, which codes for the α-2 isoform of the sodium-potassium adenosine triphosphatase, a P-type cation transport adenosine triphosphatase, and responsible for the so-called familial hemiplegic migraine type 2. We describe a 9-year-old boy affected by familial hemiplegic migraine, with a novel ATP1A2 gene mutation (c.1799T>C p.V600A) in exon 13. Long-term treatment with flunarizine resulted in a good clinical response and the prevention of further attacks.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Child, Preschool
  • Humans
  • Male
  • Migraine with Aura / diagnosis*
  • Migraine with Aura / genetics*
  • Molecular Sequence Data
  • Mutation / genetics*
  • Pedigree
  • Sodium-Potassium-Exchanging ATPase / genetics*

Substances

  • ATP1A2 protein, human
  • Sodium-Potassium-Exchanging ATPase