Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification

J Neurol Sci. 2017 Jun 15:377:62-64. doi: 10.1016/j.jns.2017.03.053. Epub 2017 Mar 31.
No abstract available

Keywords: Basal ganglia calcification; Bipolar disorder; Fahr's syndrome; Migraines; SLC20A2.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Basal Ganglia Diseases / diagnostic imaging
  • Basal Ganglia Diseases / genetics*
  • Basal Ganglia Diseases / psychology
  • Bipolar Disorder / diagnostic imaging
  • Bipolar Disorder / genetics
  • Brain / diagnostic imaging
  • Calcinosis / diagnostic imaging
  • Calcinosis / genetics*
  • Calcinosis / psychology
  • Female
  • Humans
  • Male
  • Middle Aged
  • Migraine without Aura / diagnostic imaging
  • Migraine without Aura / genetics
  • Mutation, Missense*
  • Sodium-Phosphate Cotransporter Proteins, Type III / genetics*

Substances

  • SLC20A2 protein, human
  • Sodium-Phosphate Cotransporter Proteins, Type III