Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome

Neurology. 2014 Aug 26;83(9):861-3. doi: 10.1212/WNL.0000000000000735. Epub 2014 Jul 23.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cerebellar Ataxia / genetics*
  • Cerebellar Ataxia / physiopathology*
  • Child
  • Child, Preschool
  • Female
  • Foot Deformities, Congenital / genetics*
  • Foot Deformities, Congenital / physiopathology*
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / physiopathology*
  • Hemiplegia / genetics*
  • Hemiplegia / physiopathology*
  • Humans
  • Male
  • Mutation, Missense
  • Optic Atrophy / genetics*
  • Optic Atrophy / physiopathology*
  • Phenotype
  • Reflex, Abnormal / genetics*
  • Sodium-Potassium-Exchanging ATPase / genetics*

Substances

  • ATP1A3 protein, human
  • Sodium-Potassium-Exchanging ATPase

Supplementary concepts

  • Alternating hemiplegia of childhood
  • CAPOS syndrome