ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2021
Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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Who cites it
26 citing papers in PubMed, 41 citations in OpenAlex.
- Autism-associated SCN2A deficiency disrupts cortico-striatal circuitry in human brain assembloids.Neuron · 2026Article
- Leveraging human genetic variation to therapeutically target hundreds of genes with dominant & dispensable disease alleles.medRxiv : the preprint server for health sciences · 2026Article
- Engineering a human-based translational activator for targeted protein expression restoration.Nucleic acids research · 2026Article
- KLHL13 functional defects cause neurodevelopmental disorder in humans that can be rescued via inhibition of AURKB in cellular and animal models.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Neurologist's Black Swan: Molecular Basis of Prenatal Seizures.International journal of molecular sciences · 2025Review
- The Endo-GeneScreen platform identifies drug-like probes that regulate endogenous protein levels within physiological contexts.Nature communications · 2025Article
- Use of polyadenosine tail mimetics to enhance mRNA expression from genes associated with haploinsufficiency disorders.Molecular therapy. Nucleic acids · 2025Article
- Restoration of excitation/inhibition balance enhances neuronal signal-to-noise ratio and rescues social deficits in autism-associatedbioRxiv : the preprint server for biology · 2025Article
- Progress in genetic mechanisms and precise treatment of neurocutaneous syndrome-related epilepsy.Frontiers in neurology · 2025Review
- Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks.International journal of medical sciences · 2025Review
- CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency.Scientific reports · 2024Article
- Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.International journal of molecular sciences · 2024Review
- Antisense oligonucleotides as a precision therapy for developmental and epileptic encephalopathies.CNS neuroscience & therapeutics · 2024Review
- The complex molecular epileptogenesis landscape of glioblastoma.Cell reports. Medicine · 2024Article
- Genetic Mutations Associated With TNFAIP3 (A20) Haploinsufficiency and Their Impact on Inflammatory Diseases.International journal of molecular sciences · 2024Review
- Lethal phenotypes in Mendelian disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Review
- The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.Journal of biomedical science · 2024Review
- Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency.Journal of inherited metabolic disease · 2024Review
- Lethal phenotypes in Mendelian disorders.medRxiv : the preprint server for health sciences · 2024Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
This review summarizes the pathogenic mechanisms that underpin the monogenic epilepsies and discusses the potential of novel precision therapeutics to treat these disorders. Pathogenic mechanisms of epilepsy include recessive (null alleles), haploinsufficiency, imprinting, gain-of-function, and dominant negative effects. Understanding which pathogenic mechanism(s) that underlie each genetic epilepsy is pivotal to design precision therapies that are most likely to be beneficial for the patient. Novel therapeutics discussed include gene therapy, gene editing, antisense oligonucleotides, and protein replacement. Discussions are illustrated and reinforced with examples from the literature.
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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.