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Metabolic etiologies in children with infantile epileptic spasm syndrome: Experience at a tertiary pediatric neurology center.

Merve Feyza YükselNeslihan DoğuluMiraç YıldırımEngin KöseÖmer BektaşFatma Tuba EminoğluSerap Teber
Published in: Brain & development (2024)
This study provides insight into the diagnostic challenges associated with IESS and highlights the importance of metabolic investigations, especially in cases without a clear etiology. The findings emphasize the need for further genetic and metabolic studies to enhance prognostic accuracy and guide potential treatment options for children with IESS, particularly in populations with high rates of consanguinity.
Keyphrases
  • young adults
  • genome wide
  • gene expression
  • dna methylation
  • case control