Disease: Dravet Syndrome
- <em>DHDDS</em>-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder
- <em>SCN1A</em> Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations
- A high seizure burden increases several prostaglandin species in the hippocampus of a Scn1a(+/-) mouse model of Dravet syndrome
- A Novel Case of <em>SCN1A</em> Mutation Presenting as Hyperkinetic Movement Disorder
- A quantitative cross-sectional study of the burden of caring for patients with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex-associated epilepsy in Japan
- A retrospective study of the yield of next-generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0-12 years aged children at a single tertiary care hospital in South India
- A review of the direct targets of the cannabinoids cannabidiol, Δ9-tetrahydrocannabinol, N-arachidonoylethanolamine and 2-arachidonoylglycerol
- A systematic review and meta-analysis of factors related to first line drugs refractoriness in patients with juvenile myoclonic epilepsy (JME)
- A tool for Dravet syndrome-associated neuropsychiatric comorbidities evaluation (DANCE)
- Additional Results from Two Randomized, Placebo-Controlled Trials of Stiripentol in Dravet Syndrome Highlight a Rapid Antiseizure Efficacy with Longer Seizure-Free Periods
- An Update on Stiripentol Mechanisms of Action: A Narrative Review
- Assessment of aggressive behavior in Dravet syndrome: a critical look
- Autism and attention-deficit/hyperactivity disorder in children with Dravet syndrome: A population-based study
- Autism and attention-deficit/hyperactivity disorder in Dravet syndrome
- BAYESIAN NON-HOMOGENEOUS HIDDEN MARKOV MODEL WITH VARIABLE SELECTION FOR INVESTIGATING DRIVERS OF SEIZURE RISK CYCLING
- Cardiac-Specific Deletion of Scn8a Mitigates Dravet Syndrome-Associated Sudden Death in Adults
- Caregiver perceptions of the impact of Dravet syndrome on the family, current supports and hopes and fears for the future: A qualitative study
- CBD in the Treatment of Epilepsy
- Changes in pediatric referrals after the 2009 ketogenic diet consensus recommendations
- Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage Behavior
- Comparative efficacy and safety of stiripentol, cannabidiol and fenfluramine as first-line add-on therapies for seizures in Dravet syndrome: A network meta-analysis
- Comprehensive scoping review of fenfluramine's role in managing generalized tonic-clonic seizures in developmental and epileptic encephalopathies
- Consensus panel recommendations for the optimization of EPIDIOLEX treatment for seizures associated with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex
- Conventional and novel anti-seizure medications reveal a particular role for GABA<sub>A</sub> in a North Sea progressive myoclonus Epilepsy Drosophila model
- Correlation Analysis of Multi-Scale Ictal EEG Signals in Juvenile Myoclonic Epilepsy
- Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy
- Cost Effectiveness of Adding Fenfluramine to Standard of Care for Patients with Dravet Syndrome in Sweden
- Deciphering the Complexities of Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) Mutation: A Case of Intractable Epilepsy in a Five-and-a-Half-Month-Old Male
- Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex
- Dissecting the Shared Genetic Architecture of Common Epilepsies With Cortical Brain Morphology
- Dravet syndrome seizure frequency and clustering: Placebo-treated patients in clinical trials
- Dravet Syndrome: A Rare Form of Epilepsy
- Drug-resistant generalized epilepsies: Revisiting the frontiers of idiopathic generalized epilepsies
- Drug-resistant juvenile myoclonic epilepsy: A literature review
- Effect of Hepatic Impairment on the Pharmacokinetics of Fenfluramine and Norfenfluramine
- Effect of levodopa on pathological gait in Dravet syndrome: A randomized crossover trial using three-dimensional gait analysis
- Effectiveness of Highly Purified Cannabidiol in Refractory and Super-Refractory Status Epilepticus: A Case Series
- Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome
- Enhancing the action of serotonin by three different mechanisms prevents spontaneous seizure-induced mortality in Dravet mice
- Epilepsies
- Epilepsy and sudden unexpected death in epilepsy in a mouse model of human <em>SCN1B</em>-linked developmental and epileptic encephalopathy
- Epilepsy phenotypes across the different age-ranges in IQSEC2-related encephalopathy: An Italian multicentre retrospective cohort study
- Epilepsy, EEG and chromosomal rearrangements
- Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy
- Exploring individual parent-to-parent support interventions for parents caring for children with brain-based developmental disabilities: A scoping review
- Feeding Difficulties and Gastrostomy in Dravet Syndrome: A UK-Wide Survey and 2-Center Experience
- Fenfluramine treatment in pediatric patients with Dravet syndrome reduces seizure burden and overall healthcare costs: A retrospective and observational real-world study
- Fine Mapping and Candidate Gene Analysis of Dravet Syndrome Modifier Loci on Mouse Chromosomes 7 and 8
- Fine mapping and candidate gene analysis of Dravet syndrome modifier loci on mouse chromosomes 7 and 8
- Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency
- Gene-gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy
- Genetic exploration of Dravet syndrome: two case report
- Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies
- Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population
- How Has the Treatment of Polish Children with Dravet Syndrome Changed? Future Perspectives
- Identification of etiologies according to baseline clinical features of pediatric new-onset refractory status epilepticus in single center retrospective study
- Innovative drug discovery strategies in epilepsy: integrating next-generation syndrome-specific mouse models to address pharmacoresistance and epileptogenesis
- Integrating Proteomics and Transcriptomics Reveals the Potential Pathways of Hippocampal Neuron Apoptosis in Dravet Syndrome Model Mice
- Les données probantes et les recommandations sur le cannabis à des fins médicales chez les enfants
- Microglia Mitigate Neuronal Activation in a Zebrafish Model of Dravet Syndrome
- Modulating Endoplasmic Reticulum Chaperones and Mutant Protein Degradation in GABRG2(Q390X) Associated with Genetic Epilepsy with Febrile Seizures Plus and Dravet Syndrome
- Mosaicism-independent mechanisms contribute to Pcdh19-related epilepsy and repetitive behaviors in <em>Xenopus</em>
- Myoclonus improvement after seizures in progressive myoclonic epilepsy type 7: a case report
- Navigating Dravet syndrome in Spain: A cross-sectional study of diagnosis, management, and care coordination
- Ndnf interneuron excitability is spared in a mouse model of Dravet syndrome
- Off-label use of cannabidiol in genetic epileptic and developmental encephalopathies: A case report
- Opposing effects of the purinergic P2X7 receptor on seizures in neurons and microglia in male mice
- Optimal dose of fenfluramine in adjuvant treatment of drug-resistant epilepsy: evidence from randomized controlled trials
- Patient and provider attitudes regarding sudden unexpected death in epilepsy disclosure at a low-resource, minority community health center
- Perampanel for the treatment of epilepsy with genetic aetiology: Real-world evidence from the PERMIT Extension study
- Placebo response in patients with Dravet syndrome: Post-hoc analysis of two clinical trials
- Population pharmacokinetics, enzyme occupancy, and pharmacodynamic modeling of soticlestat in patients with developmental and epileptic encephalopathies
- Population-based study of rare epilepsy incidence in a US urban population
- Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox-Gastaut syndrome in clinical practice
- Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies
- Preictal dysfunctions of inhibitory interneurons paradoxically lead to their rebound hyperactivity and to low-voltage-fast onset seizures in Dravet syndrome
- Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study
- Progress report on new medications for seizures and epilepsy: A summary of the 17th Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVII). I. Drugs in preclinical and early clinical development
- Progress report on new medications for seizures and epilepsy: A summary of the 17th Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVII). II. Drugs in more advanced clinical development
- Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center
- Respiratory Syncytial Virus in a Child With Dravet Syndrome: A Case Report
- Response: Do all individuals with Dravet syndrome have intellectual disability?
- Sarcopenia and anti-seizure medication response in juvenile myoclonic epilepsy
- SCN1A intronic variants impact on Nav1.1 protein expression and sodium channel function, and associated with epilepsy phenotypic severity
- SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience
- Split intein converting peptide protein interaction into electrochemically assisted metal ion catalytic signal in the prenatal screening of pediatric epilepsy
- Stiripentol efficacy against status epilepticus and associated mortality in mice
- Survey of rehabilitation approaches and plans for individuals with dravet syndrome (RAPIDS) in Italy: Current practices and strategies to progress
- Testing of putative antiseizure medications in a preclinical Dravet syndrome zebrafish model
- The assessment of the impact of antiepileptic drugs on cognitive functions via N-200/P-300 potentials and neuropsychological measures
- The efficacy and safety of cannabidiol (CBD) in pediatric patients with Dravet Syndrome: a narrative review of clinical trials
- The emotional burden of caring for patients with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex-associated epilepsy: A qualitative study in Japan
- The social and emotional burden of Dravet syndrome on Spanish caregivers
- The Therapeutic Role of Perampanel in Treating Pediatric Patients With Dravet Syndrome: A Scoping Review
- Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches
- Underlying Disorders in Children With Infection-Related Acute Encephalopathy
- Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes
- Unraveling the shared genetics of common epilepsies and general cognitive ability
- Vagus nerve stimulation for the therapy of Dravet syndrome: a systematic review and meta-analysis
- Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects