ArticleEpilepsia2022
International consensus on diagnosis and management of Dravet syndrome.
Article in Epilepsia, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 120 papers, 5 of them syntheses that pooled it.
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Who cites it
120 citing papers in PubMed, 5 syntheses or guidelines pooled it, 210 citations in OpenAlex.
- Genetic testing for diagnosing neurodevelopmental disorders and epilepsy: a systematic review and meta-analysis.Systematic reviews · 2025Pooled it
- Best clinical practice recommendations for the management of symptomatic hemorrhoids via laser hemorrhoidoplasty: the LHP recommendations.Techniques in coloproctology · 2024Guideline
- Comparative efficacy and safety of stiripentol, cannabidiol and fenfluramine as first-line add-on therapies for seizures in Dravet syndrome: A network meta-analysis.Epilepsia open · 2024Pooled it
- Dravet syndrome: A systematic literature review of the illness burden.Epilepsia open · 2023Pooled it
- Pooled it
- Soticlestat as an adjunctive therapy in children and young adults with Dravet syndrome.Epilepsia · 2026Trial
- Long-term safety and effectiveness of fenfluramine in children and adults with Dravet syndrome.Epilepsia · 2025Trial
- Clobazam Use in Epilepsy: An Old Story with a New Twist. A Narrative Review.Neurology and therapy · 2026Review
- Precision Medicine in Epilepsy: Diagnostic Yield by Next-Generation Sequencing and Genotype-Phenotype Findings in a Romanian Cohort.International journal of molecular sciences · 2026Article
- The role of pharmacogenomics in epilepsy treatment: advancements in personalized medicine.The pharmacogenomics journal · 2026Review
- From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy.Clinical genetics · 2026Article
- Temperature-related seizures as a daily challenge in Dravet syndrome: Beyond fevers.Developmental medicine and child neurology · 2026Article
- Efficacy of Dravet Syndrome Treatments in a Subset of Individuals with 2q24.3 Deletion: A-5 Patient Case Series.Journal of child neurology · 2026Article
- Genetic Diagnosis in Epilepsy: Implications for Clinical Management.Current neurology and neuroscience reports · 2026Review
- Efficacy of stiripentol, fenfluramine, and their combination on clinical outcomes in Dravet syndrome: A preliminary report.Epilepsia open · 2026Article
- Sodium Channel Blocker Tolerance as a Metric for Disease Modification in Dravet Syndrome.Annals of the Child Neurology Society · 2026Article
- Nationwide Survey of Association Between Fever and Epileptic Seizure in CDKL5 Deficiency Disorder Revealed Therapeutic Implications.Annals of clinical and translational neurology · 2026Article
- Advancing Disease Modification in Dravet Syndrome.Epilepsy currents · 2026Article
- Epilepsy-Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties.Annals of clinical and translational neurology · 2026Article
- Developing a Specialized Dravet Syndrome Ontology for Rare Disease Informatics and AI Applications.medRxiv : the preprint server for health sciences · 2026Article
60 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThis study was undertaken to gain consensus from experienced physicians and caregivers regarding optimal diagnosis and management of Dravet syndrome (DS), in the context of recently approved, DS-specific therapies and emerging disease-modifying treatments.
methodsA core working group was convened consisting of six physicians with recognized expertise in DS and two representatives of the Dravet Syndrome Foundation. This core group summarized the current literature (focused on clinical presentation, comorbidities, maintenance and rescue therapies, and evolving disease-modifying therapies) and nominated the 31-member expert panel (ensuring international representation), which participated in two rounds of a Delphi process to gain consensus on diagnosis and management of DS.
resultsThere was strong consensus that infants 2-15 months old, presenting with either a first prolonged hemiclonic seizure or first convulsive status epilepticus with fever or following vaccination, in the absence of another cause, should undergo genetic testing for DS. Panelists agreed on evolution of specific comorbidities with time, but less agreement was achieved on optimal management. There was also agreement on appropriate first- to third-line maintenance therapies, which included the newly approved agents. Whereas there was agreement for recommendation of disease-modifying therapies, if they are proven safe and efficacious for seizures and/or reduction of comorbidities, there was less consensus for when these should be started, with caregivers being more conservative than physicians. SIGNIFICANCE: This International DS Consensus, informed by both experienced global caregiver and physician voices, provides a strong overview of the impact of DS, therapeutic goals and optimal management strategies incorporating the recent therapeutic advances in DS, and evolving disease-modifying therapies.
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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.