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Genetic exploration of Dravet syndrome: two case report.

Agung TrionoElisabeth Siti Herininull Gunadi
Published in: Journal of medical case reports (2024)
These findings emphasize the importance of comprehensive genetic testing beyond SCN1A, providing valuable insights for personalized management and tailored therapeutic interventions in patients with Dravet syndrome. Our study underscores the potential of next-generation sequencing in advancing genotype-phenotype correlations and enhancing diagnostic precision for effective disease management.
Keyphrases
  • case report
  • copy number
  • physical activity
  • genome wide
  • smoking cessation
  • gene expression
  • human health
  • cell free