ArticleMolecular therapy : the journal of the American Society of Gene Therapy2020
RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
What it found
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Who cites it
25 citing papers in PubMed, 32 citations in OpenAlex.
- Safety, efficacy, and distal nerve Schwann cell biodistribution in mice and NHPs to support translation of AAV9 RNAi therapy for CMT1A.Molecular therapy. Nucleic acids · 2026Article
- Article
- Development ofMolecular therapy. Advances · 2026Article
- Epilepsy: Molecular Pathogenesis and Emerging Therapies.MedComm · 2026Review
- Genetic medicines for epilepsy: unlocking new avenues for seizure control.Frontiers in bioengineering and biotechnology · 2026Review
- Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy.Brain : a journal of neurology · 2025Article
- Progressive Cone-Rod Synaptic Dysfunction in Dynamin-1 ( DNM1 ) Related Developmental and Epileptic Encephalopathy: A Distinct Retinal Phenotype in Human.Clinical genetics · 2025Article
- Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomes.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Precision Therapeutics in Lennox-Gastaut Syndrome: Targeting Molecular Pathophysiology in a Developmental and Epileptic Encephalopathy.Children (Basel, Switzerland) · 2025Review
- Review
- RNA-based therapies for neurodevelopmental disorders: innovative tools for molecular correction.Frontiers in molecular biosciences · 2025Review
- Recent advances and current status of gene therapy for epilepsy.World journal of pediatrics : WJP · 2024Review
- Clinical trials for Lennox-Gastaut syndrome: Challenges and priorities.Annals of clinical and translational neurology · 2024Review
- Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Molecular Engineering of Functional SiRNA Agents.ACS synthetic biology · 2024Article
- Longitudinal Adaptive Behavioral Outcomes in Ogden Syndrome by Seizure Status and Therapeutic Intervention.medRxiv : the preprint server for health sciences · 2024Article
- Genetic Testing in Children with Developmental and Epileptic Encephalopathies: A Review of Advances in Epilepsy Genomics.Children (Basel, Switzerland) · 2023Review
- CRISPR/Cas9-generated mouse model with humanizing single-base substitution in theFrontiers in genome editing · 2023Article
- Mouse models of Kcnq2 dysfunction.Epilepsia · 2022Review
- A Review of Targeted Therapies for Monogenic Epilepsy Syndromes.Frontiers in neurology · 2022Review
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Developmental and epileptic encephalopathy (DEE) associated with de novo variants in the gene encoding dynamin-1 (DNM1) is a severe debilitating disease with no pharmacological remedy. Like most genetic DEEs, the majority of DNM1 patients suffer from therapy-resistant seizures and comorbidities such as intellectual disability, developmental delay, and hypotonia. We tested RNAi gene therapy in the Dnm1 fitful mouse model of DEE using a Dnm1-targeted therapeutic microRNA delivered by a self-complementary adeno-associated virus vector. Untreated or control-injected fitful mice have growth delay, severe ataxia, and lethal tonic-clonic seizures by 3 weeks of age. These major impairments are mitigated following a single treatment in newborn mice, along with key underlying cellular features including gliosis, cell death, and aberrant neuronal metabolic activity typically associated with recurrent seizures. Our results underscore the potential for RNAi gene therapy to treat DNM1 disease and other genetic DEEs where treatment would require inhibition of the pathogenic gene product.
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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.