A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures

Andrea Gallanti, Alessandra Tonelli, Veronica Cardin, Gennaro Bussone, Nereo Bresolin, Maria Teresa Bassi

Research output: Contribution to journalArticle

Abstract

Familial hemiplegic migraine (FHM) is a severe dominant form of migraine with aura associated with transient hemiparesis. Several other neurological signs and symptoms can be associated with FHM such as cerebellar abnormalities, cerebral edema and coma after minor head trauma, epileptic seizures and mental retardation. The sporadic form of hemiplegic migraine named SHM, presents with identical clinical symptoms. Here we report a case of a young hemiplegic migraine patient, 11 years old, who had the first hemiplegic attack at the age of 10 years. This patient has a clinical history of epileptic seizures in the childhood successfully controlled with drug therapy. No familiarity for any type of migraine or seizures can be observed within the paternal or maternal line. The patient who can therefore be considered a sporadic case, carries a novel de novo nonsense mutation p.Tyr1009X in the ATP1A2 gene (FHM2), leading to a truncated alpha-2 subunit of the Na+/K+-ATPase pump thus lacking the last 11 amino acids. The novel mutation identified confirms the role of FHM2 gene in forms of hemiplegic migraine associated with epilepsy with both familial and sporadic occurrence, and expands the spectrum of mutations related to these forms of the disease.

Original languageEnglish
Pages (from-to)123-126
Number of pages4
JournalJournal of the Neurological Sciences
Volume273
Issue number1-2
DOIs
Publication statusPublished - Oct 15 2008

Keywords

  • ATP1A2
  • C-terminus
  • Epilepsy
  • FHM
  • Migraine
  • Mutation
  • SHM

ASJC Scopus subject areas

  • Ageing
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

Fingerprint Dive into the research topics of 'A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures'. Together they form a unique fingerprint.

  • Cite this