OBSOLETO. A síndrome de Dravet (SD) é uma epilepsia genética da infância caracterizada por uma variedade de convulsões resistentes a medicamentos, muitas vezes induzidas por febre, que se manifesta em crianças previamente saudáveis e que frequentemente leva a comprometimento cognitivo e motor.
Introdução
O que você precisa saber de cara
OBSOLETO. A síndrome de Dravet (SD) é uma epilepsia genética da infância caracterizada por uma variedade de convulsões resistentes a medicamentos, muitas vezes induzidas por febre, que se manifesta em crianças previamente saudáveis e que frequentemente leva a comprometimento cognitivo e motor.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 16 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 46 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
7 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provoke
Cell membranePerikaryonCell projectionCell projection, axonSecreted
Generalized epilepsy with febrile seizures plus 1
A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
Calcium-dependent cell-adhesion protein
Cell membrane
Developmental and epileptic encephalopathy 9
A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females.
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient (PubMed:1325650, PubMed:17021166, PubMed:28256214, PubMed:29844171). Implicated in the regulation of hippocampal replay occurring within sharp wave ripples (SPW-R) important for memory (By simi
Cell membrane
Seizures, benign familial infantile, 3
A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS3 inheritance is autosomal dominant.
Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:14993607, PubMed:16412217, PubMed:23909897, PubMed:2538761, PubMed:25489750, PubMed:27864268, PubMed:29950725, PubMed:30602789). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit in
Postsynaptic cell membraneCell membraneCell projection, dendriteCytoplasmic vesicle membrane
Developmental and epileptic encephalopathy 74
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE74 is an autosomal dominant form with onset in the first year of life.
Pore-forming subunit of Nav1.1, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.
Cell membrane
Generalized epilepsy with febrile seizures plus 2
A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
Pore-forming subunit of Nav1.7, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.
Cell membraneCell projection, neuron projectionCell projection, axon
Primary erythermalgia
Autosomal dominant disease characterized by recurrent episodes of severe pain associated with redness and warmth in the feet or hands.
Alpha subunit of the heteropentameric ligand-gated chloride channel gated by Gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain (PubMed:23909897, PubMed:25489750, PubMed:29950725, PubMed:30602789). GABA-gated chloride channels, also named GABA(A) receptors (GABAAR), consist of five subunits arranged around a central pore and contain GABA active binding site(s) located at the alpha and beta subunit interface(s) (PubMed:29950725, PubMed:30602789). When activated by GA
Postsynaptic cell membraneCell membraneCytoplasmic vesicle membrane
Epilepsy, childhood absence 4
A subtype of idiopathic generalized epilepsy characterized by an onset at age 6-7 years, frequent absence seizures (several per day) and bilateral, synchronous, symmetric 3-Hz spike waves on EEG. Tonic-clonic seizures often develop in adolescence. Absence seizures may either remit or persist into adulthood.
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
2,247 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
6 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Dravet
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
11 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
99 ensaios clínicos encontrados, 22 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.524
Characterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-Years.
SCN1A -related disorders are the single most common monogenic cause of epilepsy and represent a major focus of precision medicine efforts. In conjunction with existing prospective studies, the analysis of real-world data obtained during routine clinical care can expand upon the scale and duration of available data and contribute to the development of meaningful outcomes for clinical trials. Here, we leveraged real-world data to delineate the longitudinal disease history of 100 individuals with SCN1A -related disorders using a systematic approach. We mapped a total of 671 unique clinical terms to a standardized framework in monthly increments across 681 patient-years, including 75 terms related to seizure types. Within this cohort, 89 individuals had presumed loss-of-function variants in SCN1A based on variant type and clinical diagnosis, including those with Dravet syndrome ( N = 79) and genetic epilepsy with febrile seizures plus ( N = 10). Ten individuals had a non-Dravet developmental and epileptic encephalopathy caused by gain-of-function variants in SCN1A . By annotating seizure type and frequency in monthly time-bins, we assessed seizure burden. A median of 17 changes in seizure frequency and ten terms referring to seizure type were identified per participant. Myoclonic seizures occurred with high frequency (median >5 daily), whereas hemiclonic, focal impaired consciousness, and bilateral tonic-clonic seizures occurred more rarely (median monthly). Retrospective analysis of developmental histories showed a range of cognitive abilities. Neurodevelopmental differences were observed in 83% (83/100) of individuals, of whom 83% (69/83) demonstrated delayed language skills. Motor coordination impairments, including gait disturbance, ataxia, hypotonia, and imbalance were annotated in 69% (69/100) of participants. EEG findings varied with age; most were reported as normal before nine months of age, after which the prevalence of abnormal interictal findings increased. Individuals with different clinical syndromes had unique medication landscapes, with 554 prescriptions of 37 unique therapies. Changes in treatment coincided with the diagnosis of an SCN1A -related disorder, with an increase in cannabidiol, clobazam, and fenfluramine and reduction in sodium channel-blocker use following genetic diagnosis. In summary, we reconstructed the longitudinal disease history of SCN1A -related disorders from electronic medical records using a standardized framework for the analysis of real-world clinical data. We refine existing natural history data of SCN1A -related disorders by providing a granular landscape of seizures, comorbidities, and treatment approaches over time.
Mitochondrial Dysfunction in Monogenic Developmental and Epileptic Encephalopathies.
Before diagnostic whole exome sequencing, monogenic/chromosomal developmental and epileptic encephalopathies (DEEs) were frequently misdiagnosed as mitochondrial disorders (MDs) with epilepsy, due to overlapping clinical and biochemical features. Assessing muscle functional assays in patients with a genetic diagnosis and epilepsy offers a unique opportunity to explore mitochondrial dysfunction in monogenic/chromosomal DEEs, in comparison to the mitochondrial dysfunction observed in genetically confirmed MDs. In this retrospective cohort study, clinical and biochemical data were extracted from patients suspected of MD with epilepsy who underwent muscle/fibroblast biopsy (2005-2015). Patients were classified into four groups based on the final diagnosis. Mitochondrial Disease Criteria scores were assigned. Statistical analyses were conducted using Fisher's exact, analysis of variance, and Kruskal-Wallis tests. Of 27 included participants, eleven (40.7%) had DEEs, four (14.8%) had genetically confirmed MDs, eight (29.6%) were suspected MD cases without genetic confirmation, and four (14.8%) had nonmitochondrial metabolic diseases. Mitochondrial dysfunction was common across all groups; 85% of participants met probable/definite Mitochondrial Disease Criteria, over 70% had elevated plasma lactate (>2.5 mmol/L), and 92% exhibited impaired adenosine triphosphate production. Surprisingly, moderate to severe complex dysfunction was observed in all groups except genetically confirmed MDs. Our findings indicate that mitochondrial dysfunction is prevalent in nonmitochondrial DEEs. Patients previously diagnosed with an MD based only on muscle/fibroblast biopsy may benefit from whole exome sequencing to identify genetic variants, for which targeted therapy may be available. Future research should explore whether treatment or prognosis of nonmitochondrial DEEs should be tailored to improve mitochondrial function.
Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
Rare Mendelian disorders affect 300-400 million people globally. Although genetic testing has become widely adopted, gene-specific evidence for tailored variant interpretation remains scattered across resources. We present Gene Portals, a framework for gene-centered multimodal knowledge bases that co-localize expert-harmonized clinical data, functional assays, population variation, structural annotations and gene-specific ACMG/AMP specifications within a single resource. A modular interface integrates this unified evidence with VCEP-refined ACMG specifications to enable automated gene-specific variant classification, infer molecular mechanisms, and support cross-gene analyses. We demonstrate the framework's utility across five Gene portals spanning eleven neurodevelopmental disorder-associated genes, integrating data from 4,423 individuals with 2,838 unique variants, 36,149 ClinVar submissions, and 1,044 expert-curated molecular readouts. By organizing evidence that is otherwise dispersed across multiple sources into a unified, queryable framework, the SCN, GRIN, CACNA1A, SATB2 and SLC6A1 Gene Portals became widely used community resources and provide an extensible template for standardized rare-disease variant interpretation and mechanism-aware discovery.
Zorevunersen in Children and Adolescents with Dravet Syndrome.
Dravet syndrome is a severe developmental and epileptic encephalopathy caused primarily by SCN1A haploinsufficiency. Risks of sudden unexpected death in epilepsy and cognitive deficits are higher among patients with this syndrome than in the general population with epilepsy. The effects of zorevunersen, an antisense oligonucleotide designed to up-regulate NaV1.1 sodium channels, in patients with Dravet syndrome are not known. We enrolled patients 2 to 18 years of age with Dravet syndrome who were receiving standard antiseizure medications in two phase 1-2a, open-label, multicenter studies (MONARCH and ADMIRAL). Patients were included in either a single-ascending-dose cohort, in which zorevunersen (10 to 70 mg) was administered on day 1 only, or a multiple-ascending-dose cohort, in which zorevunersen (20 to 70 mg) was administered two or three times in a 3-month period. Patients eligible for rollover to the two open-label extension studies (SWALLOWTAIL and LONGWING) continued to receive zorevunersen (≤45 mg) every 4 months. The safety and pharmacokinetics of zorevunersen were assessed in the primary analysis; clinical effects were also evaluated. A total of 81 patients were enrolled in the phase 1-2a studies. As of May 30, 2025, a total of 75 patients had entered the extension studies. Most adverse events were mild or moderate. The most common adverse event was post-lumbar puncture syndrome (in 25% of patients) in the phase 1-2a studies and was an elevated protein level in cerebrospinal fluid (in 45%) in the extension studies. One patient had suspected unexpected serious adverse reactions, 1 had an adverse event that led to study withdrawal, 2 died from sudden unexpected death in epilepsy, and 1 died from malnutrition. Patients who received 70 mg of zorevunersen (one, two, or three doses) in the phase 1-2a studies, followed by up to 45 mg in the extension studies, had a median change from baseline in convulsive-seizure frequency ranging from -58.82% to -90.91% across 1-month intervals during the first 20 months of the extension studies. The data supported improvements in overall clinical status, quality of life, and adaptive behavior with continued treatment for up to 36 months in the extension studies. The safety profile and initial clinical improvement support the continued development of zorevunersen as a potential disease-modifying treatment for Dravet syndrome. (Supported by Stoke Therapeutics; MONARCH and SWALLOWTAIL ClinicalTrials.gov numbers, NCT04442295 and NCT04740476, respectively; ADMIRAL and LONGWING ISRCTN Registry numbers, ISRCTN99651026 and ISRCTN12811235, respectively.).
Managing Fever and Vaccination Risks in Dravet Syndrome: From Pathophysiology to Clinical Practice.
Dravet syndrome (DS), a severe developmental and epileptic encephalopathy often linked to SCN1A mutations, is defined by a profound thermosensitivity, making fever and hyperthermia potent seizure triggers. This review synthesizes evidence-based strategies and expert consensus for the management of fever and vaccination in children with DS. Management diverges from standard pediatrics, prioritizing aggressive pyrexia control through early antipyretics, physical cooling, and prophylactic benzodiazepines. Proactive strategies are also crucial for non-febrile hyperthermia from triggers like hot baths and overexertion. Although vaccinations can precipitate an initial seizure, they neither cause DS nor worsen its prognosis. Immunization remains strongly recommended, with prophylactic antipyretics advised as a key risk-mitigation measure. Importantly, current management strategies are based primarily on expert consensus rather than controlled clinical trials. Bridging expert consensus with clinical evidence is essential to reduce morbidity and improve long-term quality of life in DS.
Publicações recentes
Whole-brain cellular-resolution functional network properties of seizure susceptibility.
Beyond SCN1A: genetic diversity in Dravet syndrome-like phenotype and the path to precision treatment.
Soticlestat for drug-resistant epilepsy: Current evidence and clinical perspectives.
Practical Recommendations for Cardiology Follow-Up in Patients Treated with Fenfluramine Based on Expert Opinion and Clinical Experience.
Charlotte Dravet: Life and contributions to epileptology.
📚 EuropePMC1.059 artigos no totalmostrando 193
On the Origin of the Brain Semi-Heavy Water Deuterium MR Signal Following Administration of Deuterated Metabolic Substrate: A Cautionary Tale.
Magnetic resonance in medicineCharacterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-Years.
medRxiv : the preprint server for health sciencesEvaluation of the methodology of independent Community Advisory Boards in health products research and development: a mixed-methods cross-sectional survey study.
Research involvement and engagementPractical consensus recommendations for polytherapy involving stiripentol in Dravet syndrome: A nominal group approach.
Epilepsia openLong-lasting remodeling of astrocytes in an Scna1+/- mouse model of Dravet syndrome.
EpilepsiaMitochondrial Dysfunction in Monogenic Developmental and Epileptic Encephalopathies.
Pediatric neurologyGene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
medRxiv : the preprint server for health sciencesSoticlestat as an adjunctive therapy in children and young adults with Dravet syndrome.
EpilepsiaZorevunersen in Children and Adolescents with Dravet Syndrome.
The New England journal of medicineToward a Disease-Modifying Therapy for Dravet Syndrome.
The New England journal of medicineManaging Fever and Vaccination Risks in Dravet Syndrome: From Pathophysiology to Clinical Practice.
Journal of child neurologyTemperature-related seizures as a daily challenge in Dravet syndrome: Beyond fevers.
Developmental medicine and child neurologyLong-term seizure reduction with vagal nerve stimulation in Dravet syndrome.
Developmental medicine and child neurologyThe impact of seizures on REM sleep and the cholinergic pedunculopontine nucleus in a mouse model of Dravet Syndrome.
bioRxiv : the preprint server for biologyCannabidiol in Neurology: Current Insights and Translational Perspectives.
Pharmaceuticals (Basel, Switzerland)Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
GenesDisrupted temperature-sleep coupling mechanism in a Dravet syndrome mouse model.
Nature communicationsMedical security for rare disease patients in China: Insights from patients with Dravet syndrome.
Intractable & rare diseases researchFenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability.
Epilepsia openSUDEP update 2026: recent advances in experimental and clinical research.
Current opinion in neurologyInput-and cell-type-specific developmental alterations to thalamic synapses in a Dravet syndrome mouse model.
bioRxiv : the preprint server for biologySeizures in children with Dravet syndrome in extreme heat: A qualitative study of parental perspectives.
Developmental medicine and child neurologyEpilepsy-Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties.
Annals of clinical and translational neurologyCrisis epilépticas en niños con síndrome de Dravet en condiciones de calor extremo: estudio cualitativo de la perspectiva de los progenitores.
Developmental medicine and child neurologyAmeliorating Seizures in Dravet Syndrome: A Review of Newly Approved and Investigational Drugs, RNA and Gene-Based Therapies.
CNS drugsEngineering a human-based translational activator for targeted protein expression restoration.
Nucleic acids researchStructure-Activity Relationship Study on Soticlestat Derivatives for the Discovery of CYP46A1 (CH24H) Inhibitors.
Molecules (Basel, Switzerland)Developmental dysregulation of chandelier cell excitability in a mouse model of Dravet Syndrome.
bioRxiv : the preprint server for biologycGAS-mediated IFN-I signaling contributes to disease progression in drug-refractory epilepsy.
bioRxiv : the preprint server for biologyCharacterizing early behavioral and social-emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history study.
EpilepsiaGenotypic spectrum in 1215 patients with Dravet syndrome or Dravet syndrome-like phenotype.
Pediatric researchLamotrigine is associated with a nonpathological increase in cardiac electrical conduction in people with and without heart disease.
EpilepsiaCannabidiol against Epilepsy: Insights and an Experimental In Silico Approach.
Current pharmaceutical designCognitive Orientation to daily Occupational Performance Approach using telerehabilitation with parents to improve performance issues in children/adolescents with Dravet Syndrome.
Epilepsy & behavior : E&BDevelopment of Novel Small-Molecule Targeting SCN1A-Associated Severe Myoclonic Epilepsy of Infancy.
Journal of medicinal chemistryStructural brain MRI abnormalities in SCN1A-, SCN2A-, SCN3A-, and SCN8A-related epilepsies: a cohort study.
Frontiers in neurologySeizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical development.
Journal of neurosurgery. PediatricsEfficacy of Dravet Syndrome Treatments in a Subset of Individuals with 2q24.3 Deletion: A-5 Patient Case Series.
Journal of child neurologyEpilepsy, neuroinflammation and cannabidiol What do we know thus far?
Frontiers in pharmacologyA systematic review of highly purified cannabidiol in developmental and epileptic encephalopathies and complex treatment-resistant epilepsies: Changes in seizure frequency and adverse events.
Epilepsy researchLong-term seizure reduction with vagus nerve stimulation in Dravet syndrome.
Developmental medicine and child neurologyFrom Symptomatic Therapies to Disease-Modifying Approaches for Neuronal Sodium Channel Disorders.
International journal of molecular sciencesMultiomic Analyses Reveal Brainstem Metabolic Changes in a Mouse Model of Dravet Syndrome.
CellsGlobal, regional, and national burden of chronic respiratory diseases and impact of the COVID-19 pandemic, 1990-2023: a Global Burden of Disease study.
Nature medicineTime to Change the Drug Trial Paradigm for Dravet Syndrome: Designing Trials for the Disease Rather than Squeezing the Disease into the Trial.
Annals of neurologyPharmacological and Pharmacokinetic Profile of Cannabidiol in Human Epilepsy: A Review of Metabolism, Therapeutic Drug Monitoring, and Interactions with Antiseizure Medications.
BiomoleculesDravet Syndrome Patient-Derived Neural Cells Present Altered Levels of Potassium, Copper, and Zinc.
ACS chemical neuroscienceLip-Pursing Stereotypies as a Manifestation of Dravet Syndrome in Adulthood.
Annals of Indian Academy of NeurologyFenfluramine for seizures associated with Dravet syndrome and Lennox-Gastaut syndrome.
Australian prescriberCost-effectiveness of fenfluramine as add-on treatment in the management of Dravet Syndrome: A real-world multicenter study.
Epilepsia openClinical and genetics spectrum of 392 Chinese patients with genetic epilepsy with febrile seizures plus.
Journal of neurologyAnesthetic Management Using Remimazolam for Dental Treatment in a Pediatric Patient With Dravet Syndrome.
Anesthesia progressPsychometric validation of the quality of life Inventory - Disability (QI-Disability) among patients with Lennox-Gastaut syndrome and Dravet syndrome.
Epilepsy & behavior : E&BRelieving the Weight: Fenfluramine's Re-emergence as Antiseizure Medication for Lennox-Gastaut and Dravet Syndrome.
The Annals of pharmacotherapyVariability vs. phenotype: Multimodal analysis of Dravet syndrome brain organoids powered by deep learning.
iScienceStiripentol use in Dravet syndrome patients in the USA: Results of a real-world study.
Epilepsia openThe seen and unseen facets of Dravet syndrome across the disease trajectory: Insights from European ethnographic research.
Epilepsy & behavior : E&BIntravenous immunoglobulin and febrile status epilepticus in children with Dravet syndrome: A retrospective multicentre study.
Developmental medicine and child neurologyPhysiologically Based Pharmacokinetic Modeling of Clobazam and Stiripentol Co-Therapy in Dravet Syndrome.
Journal of personalized medicineExploration of the mechanism of action of cenobamate.
SeizureOrganizational and behavioral models in the management of patients with developmental and epileptic encephalopathy, Lennox-Gastaut syndrome and Dravet syndrome in Italy: a focus on the transition from pediatric to adult care.
Frontiers in health servicesCognitive stagnation and executive function deficits in young children with SCN1A+ Dravet syndrome: Detailed characterization of onset, progression, and impact in the ENVISION natural history study.
EpilepsiaFlip of the Switch: Targeting GABA Dysregulation to Treat Nonseizure Comorbidities in Dravet Syndrome.
Epilepsy currentsNatural History of Children and Adolescents With Dravet Syndrome: A 24-Month Follow-Up.
Neurology[Analysis of clinical phenotypes and genotypic characteristics in children with epilepsy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsSystematic review of indirect costs to families of children with developmental epileptic encephalopathies.
Orphanet journal of rare diseasesAnti-convulsant efficacy of long-acting injectable cannabidiol formulation (IVL5005) in the pentylenetetrazol-induced convulsions, with pharmacokinetic characterization.
Frontiers in pharmacologyLeveraging machine learning to detect subclinical seizures in Dravet syndrome: a step toward early diagnosis and SUDEP prevention.
Annals of medicine and surgery (2012)Real-world efficacy and safety of cannabidiol in developmental and epileptic encephalopathies.
Epilepsia openPrecision medicine for sodium channelopathy-related autism and epilepsy.
Trends in molecular medicineA Novel Mouse Model for Developmental and Epileptic Encephalopathy by Purkinje Cell-Specific Deletion of Scn1b.
The Journal of neuroscience : the official journal of the Society for NeuroscienceEarly developmental outcome in Dravet syndrome: A scoping review of cognitive, language, behavioural and motor development in the first six years of life.
Neuroscience and biobehavioral reviewsAdult-Onset Neurological Deterioration in Dravet Syndrome Associated With a Novel SCN1A Missense Variant (p.Gly1371Asp): A Case Report.
CureusFenfluramine treatment beyond dravet and lennox-gastaut syndromes - A retrospective study suggesting a novel use in genetic, developmental and epileptic encephalopathies (DEEs).
Seizureα-Asaronol, a low-toxicity α-asarone metabolite, suppresses seizures in zebrafish Dravet syndrome via positive modulation of GABAA receptors and LDH inhibition.
NeuropharmacologyDravet syndrome diagnosed in adults.
Practical neurologyBexicaserin for the treatment of seizures in developmental and epileptic encephalopathies: A phase 1b/2a trial (PACIFIC).
EpilepsiaTo the editors: SCN1A gain-of-function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.
Epilepsia openDravet syndrome therapeutics: where are we, what works, and what's next?
Expert opinion on pharmacotherapyDevelopmental and epileptic encephalopathies: From current care to future perspectives - insights from epilepsy centres in Lombardy, Italy.
Epilepsy & behavior : E&BCenobamate in pediatric epilepsy and developmental and epileptic encephalopathies: Efficacy, safety, and syndrome-specific considerations.
Epilepsy & behavior : E&BRecent advances in the pharmacology of voltage-gated ion channels.
Pharmacological reviews"Daring to speak of SUDEP" - caregiver and neurologist perspectives on the risk for premature mortality in Dravet Syndrome.
Epilepsy & behavior : E&BFenfluramine and Comparative Antiseizure Therapies in Drug-Resistant Epilepsy: A Systematic Review of Efficacy, Cardiometabolic Safety, and Clinical Outcomes.
CureusWhat happens after the diagnosis of non-seizure symptoms in Dravet syndrome? A Brazilian national survey.
Epilepsy & behavior : E&BNanoparticle-encapsulated neuropeptide Y provides robust seizure protection in SCN1A-derived epilepsy.
EpilepsiaPharmacovigilance study on old drugs repurposed for rare diseases across different indications: the case of fenfluramine.
Frontiers in pharmacologySeizure classification using a multimodal seizure monitoring system (Nelli) in Dravet and Lennox-Gastaut syndromes: A non-randomized, single-center feasibility study.
Epilepsia[Modern approaches to the diagnosis and treatment of Dravet syndrome in the Russian Federation. (Literature review and resolution of the Expert Council)].
Zhurnal nevrologii i psikhiatrii imeni S.S. KorsakovaRecent Advances in the Management of Seizures in Children.
Paediatric drugsTime to genetic testing in Dravet syndrome: Trends, barriers, and opportunities for improvement.
Epilepsia[Sudden unexpected death in epilepsy: risk factors, prevention strategies, and approaches for family engagement].
MedicinaUtilization of Induced Pluripotent Stem Cell-Derived Neurons to Investigate the Splice-Modification Efficacy of Splice-Switching Drug Candidates.
Methods in molecular biology (Clifton, N.J.)Dravet Syndrome: Past, Present, and Future.
Acta neurologica TaiwanicaState-of-the-art management of Dravet syndrome.
Developmental medicine and child neurologyDepolarization block induction via slow NaV1.1 inactivation in Dravet syndrome.
Scientific reportsAvailability and affordability of cannabinoids for epilepsy treatment across different geographic settings-A survey from the ILAE Plant-Based Therapy Task Force.
EpilepsiaArtificial intelligence-driven closed-loop devices in sudden unexpected death in epilepsy prediction and prevention: Insights from persons with epilepsy and caregivers.
EpilepsiaNonseizure symptoms and broader seizure impacts in patients with Dravet syndrome and Lennox-Gastaut syndrome in clinical practice settings: Results from a multinational survey.
Epilepsia openProgress in genetic mechanisms and precise treatment of neurocutaneous syndrome-related epilepsy.
Frontiers in neurologyAbnormalities in the functional activity of neural networks in a human iPSC model of Dravet syndrome.
Neuroscience researchVoltage sensor interaction site for a selective small molecule Nav1.1 sodium channel potentiator that enhances firing of fast-spiking interneurons.
Molecular pharmacologyThe Difficult Journey of a Child with Dravet Syndrome: Perspectives from a Parent and the Neuropaediatrician.
Neurology and therapyAssessing Real World Efficacy, Safety, and 18-Month Retention Rates of Cannabidiol in Individuals With Drug Resistant Epilepsies.
European journal of neurologyEpilepsy surgery for seizure control in individuals with Dravet syndrome: is it a safe and practical option?
Expert review of neurotherapeuticsNovel neuropathological observations in an adult with Dravet syndrome.
EpilepsiaWhole Exome Sequencing Based Diagnostics in Complex Childhood Epilepsy Syndromes-A Cohort Study on Clinical Utility.
Clinical geneticsTherapeutic use of cannabis and cannabinoids: benefits and risks.
Polish archives of internal medicineDevelopmental progression of respiratory dysfunction in a mouse model of Dravet syndrome.
JCI insightHTA Evidence in Rare Diseases: Just Rare or Also Special?
PharmacoEconomicsAtaxia and cerebellar hypoexcitability in a mouse model of SCN1B-linked Dravet syndrome.
JCI insightβ-Asaronol, the Neuroactive Component of Acorus tatarinowii: Mitigating Seizures with Minimal Developmental Risk in Dravet Syndrome.
ACS chemical neuroscienceA case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region.
Human genome variation[Low Abuse Potential of Plant-Derived Highly Purified Cannabidiol: A Narrative Review].
Yakugaku zasshi : Journal of the Pharmaceutical Society of JapanA survey of adult caregivers of people with developmental and epileptic encephalopathies: A long-term care planning needs assessment.
Epilepsy & behavior : E&BThe epilepsy deaths register: Third-party reports of SUDEP in adults and older adolescents.
SeizureeIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy.
Journal of neurodevelopmental disordersGut Microbiota Composition and Modulation in Developmental and Epileptic Encephalopathies.
The European journal of neuroscienceNonseizure Outcomes in Dravet Syndrome: Potential Impact of Pharmacotherapy.
CNS drugsCannabidiol Lacks Direct Effect on Cortical Excitability: A Randomized, Double Blind, Placebo Controlled, 3-Way Crossover Trial.
Clinical pharmacology and therapeuticsA new loss-of-function variant in SCN1A is associated with early-onset complex febrile seizures.
SeizureVoltage-gated sodium channels in the nervous system: Molecular physiology to therapeutic interventions.
Neural regeneration researchSudden Unexpected Death in Epilepsy (SUDEP) Summit: Recommendations and priorities for clinical action, awareness, public health and epidemiology, and basic science.
Epilepsy & behavior : E&BThe Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis.
European journal of neurologyHuman in the Loop: Embedding Medical Expert Input in Large Language Models for Clinical Applications.
Studies in health technology and informaticsEvaluating cannabidiol-induced liver injury with and without valproate using a three-dimensional human hepatocyte spheroid model.
Toxicology in vitro : an international journal published in association with BIBRADravet syndrome: novel insights into SCN1A-mediated epileptic neurodevelopmental disorders within the molecular diagnostic-therapeutic framework.
Frontiers in neuroscienceCortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes.
Journal of child neurologyAltered cardiac excitability and arrhythmia in models of SCN1B-linked developmental and epileptic encephalopathy.
JCI insightEvidence demands action: An invitation to share the burden of proof.
EpilepsiaIs there really evidence for neurodegeneration in Dravet syndrome? Commentary on the publication by Selvarajah et al.
EpilepsiaEfficacy and safety of cannabidiol in a single-center pediatric drug-resistant epilepsy cohort: a retrospective study.
Frontiers in neurologyAssociation between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review.
The Medical journal of MalaysiaNuclear neuroimaging in childhood epilepsy syndromes: A systematic review.
Epilepsy & behavior : E&BGenetic Epilepsies: Clinical pearls for early career epileptologists.
Epilepsy & behavior : E&BDefining the Cis-Regulatory Elements of SCN1A in GABAergic Interneurons.
Molecular neurobiologyUse of cannabidiol for off-label treatment of patients with refractory focal, genetic generalised and other epilepsies.
Neurological research and practiceEfficacy and tolerability of fenfluramine with concomitant potassium bromide in patients with Dravet syndrome.
Epilepsia openStiripentol safety profile and efficacy in cases of SCN1A-related Dravet syndrome, multi-center experience, Saudi Arabia.
Neurosciences (Riyadh, Saudi Arabia)Evaluation of autonomic tone and cerebral hemodynamics in children with Dravet syndrome.
SeizureResponsive Neurostimulation for Treatment of Drug-Resistant Epilepsy in a Child With Dravet Syndrome.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyRetrospective Multicenter Chart Review Study of Adjunctive Cannabidiol for Seizures Associated with Lennox-Gastaut Syndrome, Dravet Syndrome and Tuberous Sclerosis Complex.
Neurology and therapyDysregulation of the Cannabinoid System in Childhood Epilepsy: From Mechanisms to Therapy.
International journal of molecular sciencesAssociation between Dravet syndrome and Catatonia: a case report.
Epilepsy & behavior reportsValidating the antiseizure effects of vitexin and related flavone glycosides in zebrafish.
Frontiers in pharmacologyDrosophila melanogaster as a rapid in vivo assay system for preclinical anti-seizure medication testing.
Epilepsia openAssessing the impact of Dravet syndrome on caregivers' quality of life and perceived burden in Poland.
BMC psychologyPhenylbutyrate for monogenetic epilepsy: Literature review.
Epilepsy researchConserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Genome biologyMedial septum parvalbumin-expressing inhibitory neurons are impaired in a mouse model of Dravet syndrome.
EpilepsiaGene Therapy Holds Potential for Dravet Syndrome.
American journal of medical genetics. Part AExploring the interconnected properties of cannabidiol suspensions and orodispersible films.
Scientific reportsDevelopment of a preclinical testing platform for clinically relevant therapy for Dravet syndrome.
EpilepsiaEffectiveness of vagus nerve stimulation in Dravet syndrome: a case series.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryGlobal, regional, and national trends in routine childhood vaccination coverage from 1980 to 2023 with forecasts to 2030: a systematic analysis for the Global Burden of Disease Study 2023.
Lancet (London, England)Emerging Insights into the Pathogenic Mechanisms of Dravet Syndrome.
Neurochemical researchCognitive Orientation to daily Occupational Performance Approach with children with Dravet syndrome using a telerehabilitation format: A single subject study.
Epilepsy & behavior : E&BA multielectrode array reveals therapeutic potential of translocator protein ligands in a zebrafish model of Dravet syndrome.
The Journal of pharmacology and experimental therapeuticsEffects of Arrhythmias on the Mortality and Morbidity in Pediatric Patients With Seizure Disorders.
Pediatric neurologySCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.
Epilepsia openMolecular Screening of SCN1A-Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution.
Annals of clinical and translational neurologySeizure reporting in older patients with developmental and epileptic encephalopathies: A retrospective review of ambulatory video-EEG reports.
SeizureStiripentol prevents lethal audiogenic seizures in two mouse strains, relevant for SUDEP prevention.
Epilepsy & behavior : E&BPotential of cenobamate as a broad-spectrum antiseizure medication.
Expert opinion on pharmacotherapySCN2A gene mutations with epilepsy: single center experience.
Italian journal of pediatricsSeizure-related death exhibits a circadian rhythm independent of seizure timing or sleep in a mouse model of Dravet syndrome.
The Journal of physiologyDrug-drug interaction between anti-seizure medications in Dravet syndrome and Lennox-Gastaut syndrome.
Expert opinion on drug metabolism & toxicologySudden Unexpected Death in Epilepsy: A Narrative Review of Mechanism, Risks, and Prevention.
Journal of clinical medicineEfficacy and tolerability of perampanel as add-on therapy in Dravet syndrome: A prospective real-world study.
Epilepsia openDravet syndrome: Insights into seizure and speech progression from registry data.
Epilepsy & behavior : E&BCurrent and Emerging Precision Therapies for Developmental and Epileptic Encephalopathies.
Pediatric neurologyMonogenic Epilepsies in Adult Epilepsy Clinics and Gene-Driven Approaches to Treatment.
Current neurology and neuroscience reportsCaregivers' experiences and challenges of the diagnostic odyssey in Dravet syndrome.
Orphanet journal of rare diseasesFenfluramine: an effective treatment for developmental epileptic encephalopathies beyond Dravet and Lennox-Gastaut Syndromes.
Journal of neurologyCaregiver-reported non-seizure and seizure outcomes with cannabidiol and clobazam in patients aged ≥2 years with Lennox-Gastaut syndrome or Dravet syndrome: A subgroup analysis of the BECOME survey.
SeizureSeizures influence sleep macrostructure and the sleep-wake circadian rhythm in Dravet syndrome.
EpilepsiaGenetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Epilepsia openEfficacy, safety, and tolerability of soticlestat (TAK-935) as adjunctive therapy in pediatric patients with dravet syndrome and Lennox-Gastaut syndrome: a meta-analysis of 3 randomized controlled trials.
Frontiers in pharmacologyInterneurons exhibit attenuated ectopic action potential firing in a severe neurodevelopmental disorder.
Journal of neurophysiologyThe impact and adherence of ketogenic dietary therapies for Dravet syndrome: A systematic review and meta-analysis.
SeizureEfficacy of Stiripentol Beyond Dravet Syndrome: A Retrospective Medical Record Review of Patients with Drug-Resistant Epilepsies.
Neurology and therapyAppropriate selection of participants in pediatric developmental and epileptic encephalopathy trials: Lessons learned and future opportunities.
EpilepsiaOntology accelerates few-shot learning capability of large language model: A study in extraction of drug efficacy in a rare pediatric epilepsy.
International journal of medical informaticsLack of effectiveness and seizure worsening with cenobamate in pediatric patients with Dravet syndrome.
EpilepsiaClinical Efficacy and Safety of the Ketogenic Diet in Patients with Genetic Confirmation of Drug-Resistant Epilepsy.
NutrientsAdjunctive use of cannabidiol in pediatric drug-resistant epilepsy: A retrospective multicenter analysis.
Epilepsy & behavior : E&BCannabidiol in Drug-Resistant Epilepsy (DRE) in Children: A Retrospective Study.
Indian pediatricsCannabinoid Use in Pediatric Epilepsy.
Indian pediatricsInhalation of 5% CO2 and activation of ASIC1a: a potential therapeutic approach for Dravet syndrome.
Acta epileptologicaSex differences in seizure presentation in a Dravet syndrome mouse model.
NeuroreportIncidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.
Orphanet journal of rare diseasesQualitative evaluation of meaningful change in Dravet syndrome as measured by the Vineland-3: Caregiver and clinician perspectives.
Epilepsy & behavior : E&BDecreased homovanillic acid and 5-hydroxyindoleacetic acid levels in the cerebrospinal fluid of patients with Dravet syndrome with parkinsonism.
Epilepsia openAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Characterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-Years.
- Mitochondrial Dysfunction in Monogenic Developmental and Epileptic Encephalopathies.
- Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.
- Zorevunersen in Children and Adolescents with Dravet Syndrome.
- Managing Fever and Vaccination Risks in Dravet Syndrome: From Pathophysiology to Clinical Practice.
- Whole-brain cellular-resolution functional network properties of seizure susceptibility.
- Beyond SCN1A: genetic diversity in Dravet syndrome-like phenotype and the path to precision treatment.
- Soticlestat for drug-resistant epilepsy: Current evidence and clinical perspectives.
- Practical Recommendations for Cardiology Follow-Up in Patients Treated with Fenfluramine Based on Expert Opinion and Clinical Experience.
- Charlotte Dravet: Life and contributions to epileptology.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:33069(Orphanet)
- MONDO:0011794(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1255956(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
