Early occurrence of photic-reflex myoclonus in CDKL5-deficiency disorder

Clin Neurophysiol. 2024 Jul:163:37-38. doi: 10.1016/j.clinph.2024.04.007. Epub 2024 Apr 17.
No abstract available

Keywords: CDKL5; Photic-reflex myoclonus; Photosensitivity.

Publication types

  • Letter
  • Case Reports

MeSH terms

  • Epileptic Syndromes
  • Female
  • Genetic Diseases, X-Linked / genetics
  • Genetic Diseases, X-Linked / physiopathology
  • Humans
  • Male
  • Myoclonus* / genetics
  • Myoclonus* / physiopathology
  • Photic Stimulation / methods
  • Protein Serine-Threonine Kinases / genetics
  • Reflex / physiology
  • Retinal Degeneration / genetics
  • Retinal Degeneration / physiopathology
  • Spasms, Infantile

Substances

  • Protein Serine-Threonine Kinases

Supplementary concepts

  • CDKL5 deficiency disorder