A wide clinical phenotype spectrum in patients with ATP1A2 mutations

J Child Neurol. 2014 Feb;29(2):265-8. doi: 10.1177/0883073813504623. Epub 2013 Oct 4.

Abstract

The clinical spectrum associated with ATP1A2 mutations is expanding and includes familial hemiplegic migraine, alternating hemiplegia of childhood, and epilepsy. We have identified a novel c.1766T>C. (Ile589Thr) heterozygous mutation in the ATP1A2 gene in a Saudi kindred with hemiplegic attacks and seizures. Our findings broaden the phenotypic spectrum of patients with ATP1A2 mutations.

Keywords: ATP1A2; hemiplegic attacks; intellectual disability; seizures.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anticonvulsants / therapeutic use
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / physiopathology
  • Epilepsy / complications
  • Epilepsy / drug therapy
  • Epilepsy / genetics*
  • Epilepsy / physiopathology
  • Family
  • Female
  • Hemiplegia / complications
  • Hemiplegia / genetics*
  • Hemiplegia / physiopathology
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Saudi Arabia
  • Sodium-Potassium-Exchanging ATPase / genetics*

Substances

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