Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic Epilepsies - Scorecard - 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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Clinical Scorecard: Feasibility of Precision Antisense Oligonucleotide Treatment for Genetic Epilepsies in Infants

At a Glance

CategoryDetail
Condition
Key MechanismsAntisense oligonucleotides (ASOs) targeting RNA for genetic conditions, as per study findings.
Target Population
Care Setting

Key Highlights

  • 1 in 1200 infants affected by infantile-onset epilepsies
  • 16% of infants had variants amenable to ASO therapies, as per study results
  • 68% of infants could be considered for ASO therapies based on study findings
  • Study assessed 160 genetically diagnosed infants
  • Multisite review for variant classification

Guideline-Based Recommendations

Diagnosis

  • Rapid genome sequencing for timely genetic diagnosis, as per study recommendations

Management

  • Assessment of variants using N1C guidelines and splice-switching framework, as per study

Monitoring & Follow-up

  • Consideration of disease factors and patient-specific phenotypes for ASO therapy eligibility, as per study

Risks

  • 56 variants classified as unable to assess due to unknown pathomechanism, as per study findings

Patient & Prescribing Data

Infants with new-onset unexplained epilepsy or complex febrile seizures, as per study

ASO therapies based on genetic variant assessment, as per study findings

Clinical Best Practices

  • Implement rapid genome sequencing in clinical practice, as per study recommendations
  • Utilize multidisciplinary partnerships for diagnosis-to-therapy frameworks, as per study
  • Apply established ASO assessment guidelines for variant classification, as per study

Related Resources & Content

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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