Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy

Clin Dysmorphol. 2018 Jan;27(1):18-20. doi: 10.1097/MCD.0000000000000205.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Epilepsy / diagnosis
  • Epilepsy / genetics
  • Exome Sequencing / methods
  • Female
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • N-Methylaspartate / metabolism
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / physiology
  • Precision Medicine / methods
  • Receptors, N-Methyl-D-Aspartate / genetics*
  • Receptors, N-Methyl-D-Aspartate / metabolism
  • Receptors, N-Methyl-D-Aspartate / physiology

Substances

  • GRIN1 protein, human
  • Nerve Tissue Proteins
  • Receptors, N-Methyl-D-Aspartate
  • N-Methylaspartate