A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism

Parkinsonism Relat Disord. 2015 Dec;21(12):1473-5. doi: 10.1016/j.parkreldis.2015.10.001. Epub 2015 Oct 8.
No abstract available

Keywords: ATP6AP2; Epilepsy; Intellectual disability; Parkinsonism.

Publication types

  • Case Reports
  • Letter
  • Video-Audio Media

MeSH terms

  • Adult
  • Atrophy
  • Cerebellum / pathology
  • Cerebral Cortex / pathology
  • Corpus Callosum / pathology
  • Epilepsy / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mental Retardation, X-Linked / genetics*
  • Neuroimaging
  • Parkinsonian Disorders / genetics*
  • Point Mutation
  • Psychomotor Disorders / genetics*
  • RNA Splice Sites / genetics*
  • Receptors, Cell Surface / genetics*
  • Vacuolar Proton-Translocating ATPases / genetics*
  • Young Adult

Substances

  • ATP6AP2 protein, human
  • RNA Splice Sites
  • Receptors, Cell Surface
  • Vacuolar Proton-Translocating ATPases