Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies - Summary - MDSpire

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies

  • By

  • Emma Sherrill

  • David Cheerie

  • Cara J. Beck

  • Ella F. Whittle

  • Yasin Shafi

  • Natalie J. Chandler

  • John Christodoulou

  • Jerusalem Daniel

  • Jane Hassell

  • Maria Lachgar-Ruiz

  • Sarah Mulhern

  • Elizabeth Scotchman

  • Jashanpreet Sidhu

  • Celine Florentia Tedja

  • Lyn S. Chitty

  • J. Helen Cross

  • Ingrid E. Scheffer

  • Haiyan Zhou

  • Timothy W. Yu

  • Vann Chau

  • Sarah E. M. Stephenson

  • Annapurna Poduri

  • Katherine B. Howell

  • Amy McTague

  • Gregory Costain

  • Alissa M. D’Gama

  • Gene-STEPS Study Group

  • Joanna Cobb

  • Anna J S Griffiths

  • Edward J Higgenbotham

  • Puneet Jain

  • Nicole S Y Liang

  • Sebastian Lunke

  • Christian R Marshall

  • Catherine Marx

  • Lyndsey McRae

  • Jimmy N H Nguyen

  • Wanqing Shao

  • Beth R Sheidley

  • Lacey Smith

  • Zornitza Stark

  • Susan M White

  • June 1, 2026

  • 0 min

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Objective:

To determine the proportion of genetically diagnosed infants with epilepsy who are amenable to antisense oligonucleotide (ASO) therapy approaches.

Key Findings:
  • 15 of 152 variants (10%) were classified as eligible for ASO therapy by N1C guidelines.
  • 24 unique variants from 25 infants (16%) were found amenable to ASO therapies.
  • 68% of infants with amenable variants could be considered for ASO therapies currently.
Interpretation:

Limitations:
  • 56 variants classified as unable to assess due to lack of functional evidence.
  • Need for rapid genome sequencing and variant assessment to identify therapy candidates.
Conclusion:

Original Source(s)

Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies

  • by Emma Sherrill, David Cheerie, Cara J. Beck, Ella F. Whittle, Yasin Shafi, Natalie J. Chandler, John Christodoulou, Jerusalem Daniel, Jane Hassell, Maria Lachgar-Ruiz, Sarah Mulhern, Elizabeth Scotchman, Jashanpreet Sidhu, Celine Florentia Tedja, Lyn S. Chitty, J. Helen Cross, Ingrid E. Scheffer, Haiyan Zhou, Timothy W. Yu, Vann Chau, Sarah E. M. Stephenson, Annapurna Poduri, Katherine B. Howell, Amy McTague, Gregory Costain, Alissa M. D’Gama, Gene-STEPS Study Group, Joanna Cobb, Anna J S Griffiths, Edward J Higgenbotham, Puneet Jain, Nicole S Y Liang, Sebastian Lunke, Christian R Marshall, Catherine Marx, Lyndsey McRae, Jimmy N H Nguyen, Wanqing Shao, Beth R Sheidley, Lacey Smith, Zornitza Stark, Susan M White

  • June 1, 2026

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