Disease: Dravet Syndrome
- <em>DHDDS</em>-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder
- A high seizure burden increases several prostaglandin species in the hippocampus of a Scn1a(+/-) mouse model of Dravet syndrome
- 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 systematic literature review on the global epidemiology of Dravet syndrome and Lennox-Gastaut syndrome: Prevalence, incidence, diagnosis, and mortality
- A systematic review and meta-analysis of factors related to first line drugs refractoriness in patients with juvenile myoclonic epilepsy (JME)
- AAV-mediated interneuron-specific gene replacement for Dravet syndrome
- Adaptive functioning and neurodevelopment in patients with Dravet syndrome: 12-month interim analysis of the BUTTERFLY observational study
- Advances and Challenges in Modeling Cannabidiol Pharmacokinetics and Hepatotoxicity
- An Update on Stiripentol Mechanisms of Action: A Narrative Review
- Autism and attention-deficit/hyperactivity disorder in children with Dravet syndrome: A population-based study
- BAYESIAN NON-HOMOGENEOUS HIDDEN MARKOV MODEL WITH VARIABLE SELECTION FOR INVESTIGATING DRIVERS OF SEIZURE RISK CYCLING
- Brain expression profiles of two <em>SCN1A</em> antisense RNAs in children and adolescents with epilepsy
- Cannabidiol-Based Prodrugs: Synthesis and Bioevaluation
- Cardiac-Specific Deletion of Scn8a Mitigates Dravet Syndrome-Associated Sudden Death in Adults
- Caregiver reported behavior, sleep and quality of life in children with Dravet syndrome: A population-based study
- Caregiver-reported outcomes with real-world use of cannabidiol in Lennox-Gastaut syndrome and Dravet syndrome from the BECOME survey
- Changes in pediatric referrals after the 2009 ketogenic diet consensus recommendations
- Chronic intermittent convection-enhanced delivery of vigabatrin to the bilateral subthalamic nucleus in an acute rat seizure model
- Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia
- Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic Epilepsy
- Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients
- Clinical Signs in 166 Beagles with Different Genotypes of Lafora
- Common genes and recurrent causative variants in 957 Asian patients with pediatric epilepsy
- Comparative efficacy and safety of stiripentol, cannabidiol and fenfluramine as first-line add-on therapies for seizures in Dravet syndrome: A network meta-analysis
- Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy
- CRISPR-Based Gene Editing Techniques in Pediatric Neurological Disorders
- Deep learning-based, fully automated, pediatric brain segmentation
- Diagnosis, epilepsy treatment and supports for neurodevelopment in children with Dravet Syndrome: Caregiver reported experiences and needs
- Do all individuals with Dravet syndrome have intellectual disability?
- Dravet syndrome seizure frequency and clustering: Placebo-treated patients in clinical trials
- 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 intracerebroventricular administration of alglucosidase alfa in two mouse models of Lafora disease: Relevance for clinical practice
- Effect of levodopa on pathological gait in Dravet syndrome: A randomized crossover trial using three-dimensional gait analysis
- Effects of Strong Inhibition of CYP3A and UGT1A9 and Strong Induction of CYP3A on the Pharmacokinetics, Safety, and Tolerability of Soticlestat: Two Drug-Drug Interaction Studies in Healthy Volunteers
- Efficacy and safety of six new antiseizure medications for adjunctive treatment of focal epilepsy and epileptic syndrome: A systematic review and network meta-analysis
- Efficacy of pharmacological treatments for Dravet syndrome: Systematic review and network meta-analysis
- Enhancing the action of serotonin by three different mechanisms prevents spontaneous seizure-induced mortality in Dravet mice
- Epilepsy and sudden unexpected death in epilepsy in a mouse model of human <em>SCN1B</em>-linked developmental and epileptic encephalopathy
- Epilepsy in KBG Syndrome: Report of Additional Cases
- Epileptic Encephalopathy <em>GABRB</em> Structural Variants Share Common Gating and Trafficking Defects
- Epileptogenic focal lesions in Dravet syndrome: A warning to investigators
- Exploring individual fixel-based white matter abnormalities in epilepsy
- Exploring individual parent-to-parent support interventions for parents caring for children with brain-based developmental disabilities: A scoping review
- Familial adult myoclonus epilepsy: a pragmatic approach
- Fenfluramine below the age of 2 years in Dravet syndrome: What about safety and efficacy?
- Fenfluramine for the treatment of status epilepticus: use in an adult with Lennox-Gastaut syndrome and literature review
- Fine Mapping and Candidate Gene Analysis of Dravet Syndrome Modifier Loci on Mouse Chromosomes 7 and 8
- Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report
- 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
- Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A
- Genetic exploration of Dravet syndrome: two case report
- Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies
- Identification of novel and de novo variant in the SCN1A gene confirms Dravet syndrome in Moroccan child: a case report
- Impact of variant subtype on electro-clinical phenotype of Dravet syndrome- a South Indian cohort study
- Inherited SCN1A missense mutation in a Dravet Syndrome family: Neuropathological correlation, family screening and implications for adult carriers
- Integrating Proteomics and Transcriptomics Reveals the Potential Pathways of Hippocampal Neuron Apoptosis in Dravet Syndrome Model Mice
- Lafora Disease: A Case Report and Evolving Treatment Advancements
- Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts
- Les données probantes et les recommandations sur le cannabis à des fins médicales chez les enfants
- Leveraging multiple approaches for detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: a case report
- Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report
- Long-term predictors of developmental outcome and disease burden in <em>SCN1A</em>-positive Dravet syndrome
- Metabolic causes of pediatric developmental & epileptic encephalopathies (DEE)- genetic variant analysis in a south Indian cohort
- Microglia Mitigate Neuronal Activation in a Zebrafish Model of Dravet Syndrome
- Natural history of rare diseases using natural language processing of narrative unstructured electronic health records: The example of Dravet syndrome
- Ndnf interneuron excitability is spared in a mouse model of Dravet syndrome
- New complex physiological findings evolve hypothesized mechanisms of Dravet syndrome
- Norwegian population-based study of effectiveness of vagus nerve stimulation in patients with developmental and epileptic encephalopathies
- Opening the K<sub>V</sub>3.1 gates: A therapeutic strategy for progressive myoclonus epilepsy type 7?
- Optimal dose of fenfluramine in adjuvant treatment of drug-resistant epilepsy: evidence from randomized controlled trials
- Pediatric epilepsy syndromes with associated developmental impairment
- Perampanel for the treatment of epilepsy with genetic aetiology: Real-world evidence from the PERMIT Extension study
- Perioperative considerations for adult patients with Dravet syndrome in regional centres
- Phenotypic features of epilepsy due to sodium channelopathies - A single center experience from India
- Population pharmacokinetics, enzyme occupancy, and pharmacodynamic modeling of soticlestat in patients with developmental and epileptic encephalopathies
- Predictors of genetic diagnosis in individuals with developmental and epileptic encephalopathies
- 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
- Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
- Reflex triggers in juvenile myoclonic epilepsy
- Refractory tonic-myoclonic status epilepticus with catamenial recurrence in epilepsy with myoclonic atonic seizures: A case report
- Response: Do all individuals with Dravet syndrome have intellectual disability?
- Sarcopenia and anti-seizure medication response in juvenile myoclonic epilepsy
- Selective striatal fast-spiking interneuron inhibition induces cortical seizure
- Severe Communication Delays Are Independent of Seizure Burden and Persist Despite Contemporary Treatments in SCN1A+ Dravet Syndrome: Insights from the ENVISION Natural History Study
- Switching from zonisamide to perampanel improved the frequency of seizures caused by hyperthermia in Dravet syndrome: a case report
- The efficacy and safety of cannabidiol (CBD) in pediatric patients with Dravet Syndrome: a narrative review of clinical trials
- The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1
- Transition in epilepsy - A pilot study with patients in and outside of academic centers
- Underlying Disorders in Children With Infection-Related Acute Encephalopathy
- Understanding neurodevelopmental trajectories and behavioral profiles in SCN1A-related epilepsy syndromes
- Unraveling Dravet Syndrome: Exploring the complex effects of sodium channel mutations on neuronal networks
- Unraveling the shared genetics of common epilepsies and general cognitive ability
- Unspooling the Thread: VIP Interneurons Linked With Autism Spectrum Disorder Behaviors but Not Seizures in Dravet Syndrome
- Vagus Nerve Stimulation Therapy for Drug-Resistant Epilepsy in Children-A Literature Review
- What have we learned from the real-world efficacy of FFA in DS and LGS? A post-marketing study in clinical practice
- Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families