Observational studyJournal of neurology, neurosurgery, and psychiatry2021
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Observational study in Journal of neurology, neurosurgery, and psychiatry, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 49 citations in OpenAlex.
- Guidelines for Specialized Epilepsy Centers: Executive Summary of the Report of the National Association of Epilepsy Centers Guideline Panel.Neurology · 2024Guideline
- Gene variant effects across sodium channelopathies predict function and guide precision therapy.Brain : a journal of neurology · 2022Pooled it
- Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.Epilepsia · 2026Article
- Blueprint for clinical N-of-1 strategies with off-label precision treatments in monogenic epilepsies.Orphanet journal of rare diseases · 2025Review
- Precision therapies for genetic epilepsies in 2025: Promises and pitfalls.Epilepsia open · 2025Article
- Monogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.Current neurology and neuroscience reports · 2025Review
- National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.Journal of medical genetics · 2024Article
- Developmental and epileptic encephalopathies.Nature reviews. Disease primers · 2024Review
- Steps to Improve Precision Medicine in Epilepsy.Molecular diagnosis & therapy · 2023Article
- Suberoylanilide Hydroxamic Acid (SAHA) Is a Driver Molecule of Neuroplasticity: Implication for Neurological Diseases.Biomolecules · 2023Review
- The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.Epilepsia open · 2023Article
- Zebrafish as a robust preclinical platform for screening plant-derived drugs with anticonvulsant properties-a review.Frontiers in molecular neuroscience · 2023Review
- Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants.Frontiers in neurology · 2023Article
- Genetic testing in adults with developmental and epileptic encephalopathy - what do we know?Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Developmental and epileptic encephalopathies - therapeutic consequences of genetic testing.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2022Article
- Epigenetic genes and epilepsy - emerging mechanisms and clinical applications.Nature reviews. Neurology · 2022Review
- Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies-a Study in a Tertiary Epilepsy Center.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Article
- Treatment of Focal-Onset Seizures in Children: Should This Be More Etiology-Driven?Frontiers in neurology · 2022Review
- Neurophysiological Findings in Neuronal Ceroid Lipofuscinoses.Frontiers in neurology · 2022Review
- Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.Neurology · 2021Review
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27 authors at 11 institutions in 5 countries.
Funding
Abstract
objectiveThe term 'precision medicine' describes a rational treatment strategy tailored to one person that reverses or modifies the disease pathophysiology. In epilepsy, single case and small cohort reports document nascent precision medicine strategies in specific genetic epilepsies. The aim of this multicentre observational study was to investigate the deeper complexity of precision medicine in epilepsy.
methodsA systematic survey of patients with epilepsy with a molecular genetic diagnosis was conducted in six tertiary epilepsy centres including children and adults. A standardised questionnaire was used for data collection, including genetic findings and impact on clinical and therapeutic management.
resultsWe included 293 patients with genetic epilepsies, 137 children and 156 adults, 162 females and 131 males. Treatment changes were undertaken because of the genetic findings in 94 patients (32%), including rational precision medicine treatment and/or a treatment change prompted by the genetic diagnosis, but not directly related to known pathophysiological mechanisms. There was a rational precision medicine treatment for 56 patients (19%), and this was tried in 33/56 (59%) and was successful (ie, >50% seizure reduction) in 10/33 (30%) patients. In 73/293 (25%) patients there was a treatment change prompted by the genetic diagnosis, but not directly related to known pathophysiological mechanisms, and this was successful in 24/73 (33%). SIGNIFICANCE: Our survey of clinical practice in specialised epilepsy centres shows high variability of clinical outcomes following the identification of a genetic cause for an epilepsy. Meaningful change in the treatment paradigm after genetic testing is not yet possible for many people with epilepsy. This systematic survey provides an overview of the current application of precision medicine in the epilepsies, and suggests the adoption of a more considered approach.
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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.