A case of familial hemiplegic migraine associated with a novel atp1a2 gene mutation

Angela De Cunto, Marco Bensa, Alessandra Tonelli

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)133-136
Number of pages4
JournalPediatric Neurology
Volume47
Issue number2
DOIs
Publication statusPublished - Aug 2012

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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