ArticleNature medicine2025
Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy.
Article in Nature medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed.
- Individualized antisense oligonucleotides for SCN2A-related developmental epileptic encephalopathy.Nature medicine · 2026Trial
- Precision therapeutics for early onset epilepsy: Allele-selective antisense oligonucleotides for SCN2A-related epilepsy.Molecular therapy. Nucleic acids · 2026Article
- Genetic developmental and epileptic encephalopathies in adulthood: Gaps in evidence and care.Epilepsia open · 2026Review
- Individualized antisense oligonucleotide treatment eligibility of patients living with neurodevelopmental diseases.Cell reports. Medicine · 2026Review
- RNA-Based Therapeutics in Genetic Neurodevelopmental Disorders: Bridging Molecular Genetics and Precision Medicine.International journal of molecular sciences · 2026Review
- Erbin Regulates Neuronal Hyperexcitability and Seizure Susceptibility in Temporal Lobe Epilepsy.Neuroscience bulletin · 2026Article
- Article
- Neonatal Epilepsy: Beyond Seizures in a Developing Brain-A Narrative Review.Brain sciences · 2026Review
- Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing.The EMBO journal · 2026Article
- Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.Epilepsia · 2026Article
- Heterogeneity of monogenic epilepsy in loci, phenotypes, and treatment approaches.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Review
- Model selection in preclinical nucleic acid therapeutics research.Communications biology · 2026Review
- From Symptomatic Therapies to Disease-Modifying Approaches for Neuronal Sodium Channel Disorders.International journal of molecular sciences · 2025Review
- Drug discovery and preclinical testing of drug candidates for developmental and epileptic encephalopathies.Epilepsia · 2025Review
- Review
- Recent advances in the pharmacology of voltage-gated ion channels.Pharmacological reviews · 2025Review
- Tailored antisense oligonucleotides for ultrarare CNS diseases: An experience-based best practice framework for individual patient evaluation.Molecular therapy. Nucleic acids · 2025Review
- Antisense oligonucleotide therapies for monogenic disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- RNA-based therapies for neurodevelopmental disorders: innovative tools for molecular correction.Frontiers in molecular biosciences · 2025Review
Corrections and comments
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Authors and funding
23 authors.
Funding
Abstract
Early-onset SCN2A developmental and epileptic encephalopathy is caused by SCN2A gain-of-function variants. Here we describe the clinical experience with intrathecally administered elsunersen, a gapmer antisense oligonucleotide targeting SCN2A, in a female preterm infant with early-onset SCN2A developmental and epileptic encephalopathy, in an expanded access program. Before elsunersen treatement, the patient was in status epilepticus for 7 weeks with a seizure frequency of 20-25 per hour. Voltage-clamp experiments confirmed impaired channel inactivation and increased persistent current consistent with a gain-of-function mechanism. Elsunersen treatment demonstrated a favorable safety profile with no severe or serious adverse events reported after 19 intrathecal administrations over 20 months. After administration in combination with sodium channel blockers, status epilepticus was interrupted intermittently and ultimately ceased after continued dosing. A >60% reduction in seizure frequency corresponding to five to seven seizures per hour was observed, which has been sustained during follow-up until the age of 22 months. These data provide preliminary insights on the safety and efficacy of elsunersen in a preterm infant. Additional investigation on the benefits of elsunersen in clinical trials is warranted.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.