A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay

Seizure. 2018 Mar;56:1-3. doi: 10.1016/j.seizure.2018.01.013. Epub 2018 Jan 31.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / physiopathology
  • Developmental Disabilities / therapy
  • Epilepsy / genetics*
  • Epilepsy / physiopathology
  • Epilepsy / therapy
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / physiopathology
  • Genetic Diseases, X-Linked / therapy
  • Genetic Variation*
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Severity of Illness Index

Substances

  • Membrane Proteins
  • phosphatidylinositol glycan-class A protein