ArticleEpilepsia2023
Perampanel as precision therapy in rare genetic epilepsies.
Article in Epilepsia, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 39 citations in OpenAlex.
- Efficacy and Safety of Adjunctive Perampanel in Young Children (7-46 Months) With Drug-Resistant Epilepsy: A Real-World Study.CNS neuroscience & therapeutics · 2026Article
- Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?NPJ genomic medicine · 2026Article
- Case Report: Early infantile drug-resistant epilepsy and gastrointestinal dysmotility associated with aFrontiers in pediatrics · 2026Article
- Clinical and Neurodevelopmental Characteristics of Paralogous Gain-of-Function Variants at GRIA2 p.Gly792 and GRIA3 p.Gly803.Clinical genetics · 2025Article
- Efficacy and safety of perampanel monotherapy in Chinese children with newly diagnosed focal epilepsy: a single-center prospective study.Translational pediatrics · 2025Article
- Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study.Epilepsia · 2025Article
- Effectiveness of perampanel as only concomitant antiseizure medication for highly active epilepsy: insight from a real-world, multicenter retrospective study.Journal of neurology · 2025Observational
- The Frmpd3 Protein Regulates Susceptibility to Epilepsy by Combining with GRIP and GluA2.Current issues in molecular biology · 2025Article
- [Efficacy and safety of perampanel add-on therapy in children with epilepsy of genetic etiology].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
- Perampanel reduces seizure frequency in patients with developmental and epileptic encephalopathy for a long term.Scientific reports · 2024Article
- Allosteric competition and inhibition in AMPA receptors.Nature structural & molecular biology · 2024Article
- The Therapeutic Role of Perampanel in Treating Pediatric Patients With Dravet Syndrome: A Scoping Review.Cureus · 2024Article
- Perampanel for Treatment of People with a Range of Epilepsy Aetiologies in Clinical Practice: Evidence from the PERMIT Extension Study.Neurology and therapy · 2024Article
- Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome.Translational pediatrics · 2024Article
- X-Linked Epilepsies: A Narrative Review.International journal of molecular sciences · 2024Review
- Effectiveness and safety of mono- and add-on perampanel in pediatric patients with epilepsy: Experience from a single-center retrospective study.Epilepsia open · 2024Observational
- Understanding the role of AMPA receptors in autism: insights from circuit and synapse dysfunction.Frontiers in psychiatry · 2024Review
- Unveiling the Multifaceted Problems Associated with Dysrhythmia.International journal of molecular sciences · 2023Review
- Efficacy of perampanel in pediatric epilepsy with known and presumed genetic etiology.Annals of clinical and translational neurology · 2023Article
- Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes.Human mutation · 2023Review
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
34 authors at 20 institutions in 12 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivePerampanel, an antiseizure drug with α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist properties, may have a targeted effect in genetic epilepsies with overwhelming glutamate receptor activation. Epilepsies with loss of γ-aminobutyric acid inhibition (e.g., SCN1A), overactive excitatory neurons (e.g., SCN2A, SCN8A), and variants in glutamate receptors (e.g., GRIN2A) hold special interest. We aimed to collect data from a large rare genetic epilepsy cohort treated with perampanel, to detect possible subgroups with high efficacy.
methodsThis multicenter project was based on the framework of NETRE (Network for Therapy in Rare Epilepsies), a web of pediatric neurologists treating rare epilepsies. Retrospective data from patients with genetic epilepsies treated with perampanel were collected. Outcome measures were responder rate (50% seizure reduction), and percentage of seizure reduction after 3 months of treatment. Subgroups of etiologies with high efficacy were identified.
resultsA total of 137 patients with 79 different etiologies, aged 2 months to 61 years (mean = 15.48 ± 9.9 years), were enrolled. The mean dosage was 6.45 ± 2.47 mg, and treatment period was 2.0 ± 1.78 years (1.5 months-8 years). Sixty-two patients (44.9%) were treated for >2 years. Ninety-eight patients (71%) were responders, and 93 (67.4%) chose to continue therapy. The mean reduction in seizure frequency was 56.61% ± 34.36%. Sixty patients (43.5%) sustained >75% reduction in seizure frequency, including 38 (27.5%) with >90% reduction in seizure frequency. The following genes showed high treatment efficacy: SCN1A, GNAO1, PIGA, PCDH19, SYNGAP1, POLG1, POLG2, and NEU1. Eleven of 17 (64.7%) patients with Dravet syndrome due to an SCN1A pathogenic variant were responders to perampanel treatment; 35.3% of them had >90% seizure reduction. Other etiologies remarkable for >90% reduction in seizures were GNAO1 and PIGA. Fourteen patients had a continuous spike and wave during sleep electroencephalographic pattern, and in six subjects perampanel reduced epileptiform activity. SIGNIFICANCE: Perampanel demonstrated high safety and efficacy in patients with rare genetic epilepsies, especially in SCN1A, GNAO1, PIGA, PCDH19, SYNGAP1, CDKL5, NEU1, and POLG, suggesting a targeted effect related to glutamate transmission.
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