De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay

Mov Disord. 2015 Aug;30(9):1290-2. doi: 10.1002/mds.26216. Epub 2015 Jul 21.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Chorea / genetics*
  • Developmental Disabilities / genetics*
  • Humans
  • Large-Conductance Calcium-Activated Potassium Channel alpha Subunits / genetics*
  • Male
  • Mutation / genetics*

Substances

  • KCNMA1 protein, human
  • Large-Conductance Calcium-Activated Potassium Channel alpha Subunits