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The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study.

Liene ThysDiane BeysenBerten CeulemansSandra KenisCharlotte DielmanFilip RoelensEdwin ReyniersLigia MateiuKatrien JanssensMarije Meuwissen
Published in: Pediatric neurology (2024)
Genetic analyses in our CP cohort, the largest monocentric study to date, demonstrated a diagnostic yield of 38.3%, highlighting the importance of genetic testing in CP. The diagnosis of a genetic disorder is essential for prognosis and clinical follow-up, as well as for family counseling. Pathway analysis points to dysregulation of general developmental and metabolic processes as well as neuronal development and function. Unraveling the role of these pathways in CP pathogenesis is instrumental for the identification of CP candidate genes as well as potential therapeutic targets.
Keyphrases
  • cerebral palsy
  • genome wide
  • gene expression
  • risk assessment
  • hiv infected
  • data analysis