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Pediatrics

Personalized Medicine Breakthroughs in Developmental and Epileptic Encephalopathy

Strategic Insights

— 1 min read

Investigators at the University Hospital Geneva have made a groundbreaking discovery in the field of personalized medicine, shedding light on the genetic causes of developmental and epileptic encephalopathy (DEE) in children. The study, published in the European Journal of Paediatric Neurology, reveals that a genetic diagnosis was identified in 68% of the 155 children studied, with the majority having symptoms onset before the age of one year. The research highlights the importance of genetic investigations in children with early onset symptoms and suggests that almost half of the disease-causing variants identified could be amenable to personalized therapy using antisense oligonucleotides (ASOs).

Key Takeaways:

  • A genetic diagnosis was identified in 68% of the 155 children with developmental and epileptic encephalopathy, with the majority having symptoms onset before the age of one year.
  • In this age group, a disease-causing variant was identified in 73% of children, the highest proportion of cases reported so far.
  • Genetic heterogeneity was high, involving 40 different genes, with the SCN1A gene being the most prevalent.
  • Eight genes were identified in multiple patients and accounted for 50% of all diagnoses, while the remaining genes represented ultra-rare disorders.
  • Molecular diagnosis can lead to treatment adaptation and allows for genetic counseling in many cases.
  • Almost half of the disease-causing variants identified would theoretically be amenable to personalized therapy using antisense oligonucleotides (ASOs).
  • The study emphasizes the growing importance of genetic investigations in children with symptoms onset before the age of 1.

Statistics:

  • 155 children with developmental and epileptic encephalopathy were included in the study.
  • A genetic diagnosis was identified in 105 (68%) of the children.
  • A majority of patients (71 %) had onset of symptoms before the age of one year.
  • Disease-causing variants were identified in 73% of children in this age group.
  • 40 different genes were involved in the genetic heterogeneity of the disease.
  • 50% of all diagnoses were attributed to eight genes identified in multiple patients.
  • 50% of the disease-causing variants identified would theoretically be amenable to personalized therapy using antisense oligonucleotides (ASOs).

Sources:

  • Comprehensive Genetic Diagnosis and Therapeutic Perspectives In 155 Children With Developmental and Epileptic Encephalopathy. European Journal of Paediatric Neurology, 2025;56:97-103.
  • University Hospital Geneva. Contact: M. Abramowicz, Diagnostic Department, Genet Med Div, Rue Gabrielle Perret Gentil 4, Ch-1205 Geneva, Switzerland.
  • European Journal of Paediatric Neurology. Publisher: Elsevier Sci Ltd, 125 London Wall, London, England. Website: www.elsevier.com; www.journals.elsevier.com/european-journal-of-paediatric-neurology/.

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